ClinVar 임상 비교

AlphaMissense AI 예측 vs ClinVar 실제 임상 분류 — 일치/불일치 분석

전체 일치도 대시보드 ClinVar
ClinVar 변이 (서브셋)
319,822
우리 보유 유전자만
커버 유전자
308
병원성/가능 변이
56,770
AM과 교차 가능
154,518
단백질 변이 추출
유전자별 AM 예측 vs ClinVar 임상 분류 일치도

PTEN: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
243
✓ 둘 다 양성
1
⚠ CV=병원성 / AM=양성
5
⚠ CV=양성 / AM=병원성
0
— AM 미적재
251
AM ↔ ClinVar 비교 가능 변이 249건 중 244건 일치 / 5건 불일치 — 일치도 98%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*404C Likely pathogenic — 미적재 해석 →
*404C Pathogenic — 미적재 해석 →
*404S Likely pathogenic — 미적재 해석 →
*404W Likely pathogenic — 미적재 해석 →
A120E Uncertain significance 1.000 pathogenic 해석 →
A120T Conflicting classifications of pathogeni 0.976 pathogenic 해석 →
A121E Likely pathogenic 1.000 pathogenic ✓ 해석 →
A121G Uncertain significance 0.935 pathogenic 해석 →
A121P Likely pathogenic 0.999 pathogenic ✓ 해석 →
A121S Likely pathogenic 0.835 pathogenic ✓ 해석 →
A121T Likely pathogenic 0.951 pathogenic ✓ 해석 →
A126D Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A126P Pathogenic 0.999 pathogenic ✓ 해석 →
A126T Likely pathogenic 1.000 pathogenic ✓ 해석 →
A126V Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
A137E Likely pathogenic 1.000 pathogenic ✓ 해석 →
A333* Pathogenic — 미적재 해석 →
A34P Pathogenic 1.000 pathogenic ✓ 해석 →
A34T Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
A39T Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
A39V Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A79T Likely benign 0.068 benign ✓ 해석 →
C105F Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C105G Likely pathogenic 0.995 pathogenic ✓ 해석 →
C105R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C105Y Pathogenic 1.000 pathogenic ✓ 해석 →
C124F Pathogenic 1.000 pathogenic ✓ 해석 →
C124G Pathogenic 0.998 pathogenic ✓ 해석 →
C124R Pathogenic 1.000 pathogenic ✓ 해석 →
C124S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C124S Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C124W Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C124Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C136F Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C136R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C136W Pathogenic 1.000 pathogenic ✓ 해석 →
C136Y Pathogenic 1.000 pathogenic ✓ 해석 →
C211* Pathogenic — 미적재 해석 →
C211* Pathogenic — 미적재 해석 →
C211W Pathogenic 0.998 pathogenic ✓ 해석 →
C218* Pathogenic — 미적재 해석 →
C250* Pathogenic — 미적재 해석 →
C296* Pathogenic/Likely pathogenic — 미적재 해석 →
C304* Pathogenic — 미적재 해석 →
C71F Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C71L Pathogenic 0.998 pathogenic ✓ 해석 →
C71W Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C71Y Pathogenic 1.000 pathogenic ✓ 해석 →
C83* Pathogenic — 미적재 해석 →
D107G Likely pathogenic 0.992 pathogenic ✓ 해석 →
D107V Pathogenic 0.997 pathogenic ✓ 해석 →
D107Y Pathogenic 0.995 pathogenic ✓ 해석 →
D115G Uncertain significance 0.384 ambiguous 해석 →
D162E Likely pathogenic 0.998 pathogenic ✓ 해석 →
D162V Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
D19N Uncertain significance 0.844 pathogenic 해석 →
D19V Pathogenic 0.989 pathogenic ✓ 해석 →
D22G Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
D22H Likely pathogenic 0.998 pathogenic ✓ 해석 →
D22V Likely pathogenic 0.996 pathogenic ✓ 해석 →
D22Y Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
D24G Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
D24H Pathogenic 1.000 pathogenic ✓ 해석 →
D24N Pathogenic 1.000 pathogenic ✓ 해석 →
D24V Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
D24Y Pathogenic 1.000 pathogenic ✓ 해석 →
D252G Pathogenic 1.000 pathogenic ✓ 해석 →
D252V Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
D310G Pathogenic/Likely pathogenic 0.108 benign ⚠ 해석 →
D326* Pathogenic — 미적재 해석 →
D326G Likely pathogenic 1.000 pathogenic ✓ 해석 →
D326H Likely pathogenic 1.000 pathogenic ✓ 해석 →
D326N Pathogenic 1.000 pathogenic ✓ 해석 →
D331* Pathogenic — 미적재 해석 →
D77* Pathogenic — 미적재 해석 →
D92A Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
D92E Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
D92G Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
D92N Likely pathogenic 0.999 pathogenic ✓ 해석 →
D92V Pathogenic 1.000 pathogenic ✓ 해석 →
D92Y Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
E106* Pathogenic — 미적재 해석 →
E106* Pathogenic — 미적재 해석 →
E114* Pathogenic — 미적재 해석 →
E150* Pathogenic — 미적재 해석 →
E150G Conflicting classifications of pathogeni 0.398 ambiguous 해석 →
E157* Pathogenic — 미적재 해석 →
E157G Conflicting classifications of pathogeni 0.415 ambiguous 해석 →
E18* Pathogenic — 미적재 해석 →
E201* Pathogenic — 미적재 해석 →
E235* Pathogenic — 미적재 해석 →
E242* Pathogenic — 미적재 해석 →
E242* Pathogenic — 미적재 해석 →
E256* Pathogenic — 미적재 해석 →
E284* Pathogenic — 미적재 해석 →
E285* Pathogenic — 미적재 해석 →
E288* Likely pathogenic — 미적재 해석 →
E291* Pathogenic — 미적재 해석 →
E299* Pathogenic — 미적재 해석 →
E307* Pathogenic — 미적재 해석 →
E314* Pathogenic — 미적재 해석 →
E390* Conflicting classifications of pathogeni — 미적재 해석 →
E40* Pathogenic — 미적재 해석 →
E43* Pathogenic — 미적재 해석 →
E43* Pathogenic — 미적재 해석 →
E43K Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
E7* Pathogenic — 미적재 해석 →
E91* Likely pathogenic — 미적재 해석 →
E91* Pathogenic — 미적재 해석 →
F104S Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
F154C Likely pathogenic 0.886 pathogenic ✓ 해석 →
F195S Likely pathogenic 0.999 pathogenic ✓ 해석 →
F200S Likely pathogenic 0.999 pathogenic ✓ 해석 →
F200V Likely pathogenic 0.859 pathogenic ✓ 해석 →
F21S Pathogenic 1.000 pathogenic ✓ 해석 →
F241L Conflicting classifications of pathogeni 0.960 pathogenic 해석 →
F241L Likely pathogenic 0.960 pathogenic ✓ 해석 →
F241S Likely pathogenic 0.987 pathogenic ✓ 해석 →
F278* Pathogenic — 미적재 해석 →
F341V Uncertain significance 0.993 pathogenic 해석 →
F56S Likely pathogenic 1.000 pathogenic ✓ 해석 →
F81C Likely pathogenic 0.999 pathogenic ✓ 해석 →
F81L Pathogenic 0.999 pathogenic ✓ 해석 →
F90L Likely pathogenic 1.000 pathogenic ✓ 해석 →
F90S Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G127* Pathogenic — 미적재 해석 →
G127A Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G127E Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G127R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G127R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G129* Pathogenic — 미적재 해석 →
G129E Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G129R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G129R Pathogenic 1.000 pathogenic ✓ 해석 →
G129V Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G129V Pathogenic 1.000 pathogenic ✓ 해석 →
G132D Pathogenic 1.000 pathogenic ✓ 해석 →
G132S Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G132V Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G165* Pathogenic — 미적재 해석 →
G165E Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G165R Pathogenic 1.000 pathogenic ✓ 해석 →
G165R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G165V Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G209* Pathogenic/Likely pathogenic — 미적재 해석 →
G20V Likely pathogenic 0.993 pathogenic ✓ 해석 →
G230* Pathogenic — 미적재 해석 →
G251D Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
G251V Likely pathogenic 1.000 pathogenic ✓ 해석 →
G251V Likely pathogenic 1.000 pathogenic ✓ 해석 →
G293* Pathogenic — 미적재 해석 →
G36* Pathogenic — 미적재 해석 →
G36E Pathogenic 1.000 pathogenic ✓ 해석 →
G36R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G36R Likely pathogenic 1.000 pathogenic ✓ 해석 →
G44D Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
H118P Likely pathogenic 0.977 pathogenic ✓ 해석 →
H118Y Conflicting classifications of pathogeni 0.639 pathogenic 해석 →
H123D Pathogenic 1.000 pathogenic ✓ 해석 →
H123N Likely pathogenic 0.995 pathogenic ✓ 해석 →
H123Q Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
H123R Pathogenic 1.000 pathogenic ✓ 해석 →
H123Y Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
H141L Likely pathogenic 0.981 pathogenic ✓ 해석 →
H141P Likely pathogenic 1.000 pathogenic ✓ 해석 →
H141R Conflicting classifications of pathogeni 0.953 pathogenic 해석 →
H272P Likely pathogenic 0.996 pathogenic ✓ 해석 →
H61D Likely pathogenic 1.000 pathogenic ✓ 해석 →
H61N Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
H61P Likely pathogenic 0.997 pathogenic ✓ 해석 →
H61R Likely pathogenic 0.999 pathogenic ✓ 해석 →
H61Y Likely pathogenic 0.990 pathogenic ✓ 해석 →
H64P Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
H93D Likely pathogenic 1.000 pathogenic ✓ 해석 →
H93N Likely pathogenic 1.000 pathogenic ✓ 해석 →
H93P Likely pathogenic 1.000 pathogenic ✓ 해석 →
H93R Pathogenic 1.000 pathogenic ✓ 해석 →
H93Y Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
I101N Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
I101T Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
I122S Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
I135K Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
I135M Conflicting classifications of pathogeni 0.975 pathogenic 해석 →
I135T Uncertain significance 0.995 pathogenic 해석 →
I135V Pathogenic/Likely pathogenic 0.438 ambiguous 해석 →
I168* Pathogenic — 미적재 해석 →
I168T Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
I253N Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
I253S Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
I28S Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
I28T Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
I32S Likely pathogenic 0.999 pathogenic ✓ 해석 →
I33T Uncertain significance 0.998 pathogenic 해석 →
I4V Uncertain significance 0.068 benign 해석 →
I50T Pathogenic 0.950 pathogenic ✓ 해석 →
I5T Likely pathogenic 0.969 pathogenic ✓ 해석 →
I67R Likely pathogenic 1.000 pathogenic ✓ 해석 →
K102* Pathogenic — 미적재 해석 →
K125* Pathogenic — 미적재 해석 →
K125E Pathogenic 1.000 pathogenic ✓ 해석 →

AM 임계: 병원성 ≥ 0.564, 양성 < 0.34 (AlphaMissense 권장 컷오프, Cheng et al. Science 2023)

📚 데이터: NCBI ClinVar variant_summary (GRCh38, 최근 다운로드) + 우리 유전자 서브셋만 추출.