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

TP53: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
221
✓ 둘 다 양성
2
⚠ CV=병원성 / AM=양성
6
⚠ CV=양성 / AM=병원성
1
— AM 미적재
270
AM ↔ ClinVar 비교 가능 변이 230건 중 223건 일치 / 7건 불일치 — 일치도 97%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*394L Likely pathogenic — 미적재 해석 →
A119G Conflicting classifications of pathogeni 0.849 pathogenic 해석 →
A138P Likely pathogenic 0.989 pathogenic ✓ 해석 →
A138V Likely pathogenic 0.933 pathogenic ✓ 해석 →
A159D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
A159P Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
A159V Pathogenic/Likely pathogenic 0.681 pathogenic ✓ 해석 →
A161D Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A161T Pathogenic/Likely pathogenic 0.956 pathogenic ✓ 해석 →
A189V Conflicting classifications of pathogeni 0.589 pathogenic 해석 →
A276D Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A276G Pathogenic/Likely pathogenic 0.979 pathogenic ✓ 해석 →
A276P Conflicting classifications of pathogeni 0.991 pathogenic 해석 →
A347D Pathogenic 0.953 pathogenic ✓ 해석 →
A347T Uncertain significance 0.623 pathogenic 해석 →
C124* Pathogenic — 미적재 해석 →
C124R Likely pathogenic 0.976 pathogenic ✓ 해석 →
C135* Pathogenic — 미적재 해석 →
C135F Pathogenic/Likely pathogenic 0.986 pathogenic ✓ 해석 →
C135G Pathogenic 0.935 pathogenic ✓ 해석 →
C135R Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C135S Likely pathogenic 0.958 pathogenic ✓ 해석 →
C135S Conflicting classifications of pathogeni 0.958 pathogenic 해석 →
C135W Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C135Y Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
C141F Conflicting classifications of pathogeni 0.888 pathogenic 해석 →
C141R Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
C141W Pathogenic 0.988 pathogenic ✓ 해석 →
C141Y Pathogenic/Likely pathogenic 0.977 pathogenic ✓ 해석 →
C176* Pathogenic — 미적재 해석 →
C176F Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C176G Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C176R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C176R Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C176S Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C176W Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C176Y Pathogenic 0.999 pathogenic ✓ 해석 →
C182* Pathogenic — 미적재 해석 →
C229R Conflicting classifications of pathogeni 0.555 ambiguous 해석 →
C238* Pathogenic — 미적재 해석 →
C238F Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C238G Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
C238R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C238S Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C238S Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C238W Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C238Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C242* Pathogenic — 미적재 해석 →
C242F Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C242G Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
C242R Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C242S Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C242S Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C242W Pathogenic 0.999 pathogenic ✓ 해석 →
C242Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C275* Pathogenic — 미적재 해석 →
C275F Pathogenic 0.998 pathogenic ✓ 해석 →
C275G Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
C275R Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
C275S Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
C275W Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C275Y Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
C277* Pathogenic — 미적재 해석 →
C277F Conflicting classifications of pathogeni 0.990 pathogenic 해석 →
C277G Likely pathogenic 0.997 pathogenic ✓ 해석 →
C277R Uncertain significance 1.000 pathogenic 해석 →
C277Y Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
D208V Conflicting classifications of pathogeni 0.953 pathogenic 해석 →
D208Y Conflicting classifications of pathogeni 0.948 pathogenic 해석 →
D228* Pathogenic — 미적재 해석 →
D259A Pathogenic 0.849 pathogenic ✓ 해석 →
D259V Conflicting classifications of pathogeni 0.945 pathogenic 해석 →
D259Y Uncertain significance 0.884 pathogenic 해석 →
D281A Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
D281E Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
D281E Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
D281G Pathogenic 1.000 pathogenic ✓ 해석 →
D281H Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
D281N Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
D281V Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
D281Y Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
E171* Pathogenic — 미적재 해석 →
E171D Pathogenic 0.389 ambiguous 해석 →
E171G Pathogenic 0.918 pathogenic ✓ 해석 →
E180* Pathogenic — 미적재 해석 →
E180K Likely pathogenic 0.955 pathogenic ✓ 해석 →
E198* Pathogenic — 미적재 해석 →
E204* Pathogenic — 미적재 해석 →
E204* Pathogenic — 미적재 해석 →
E221* Pathogenic — 미적재 해석 →
E258* Pathogenic — 미적재 해석 →
E258D Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
E258G Conflicting classifications of pathogeni 0.986 pathogenic 해석 →
E258K Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
E258K Likely pathogenic 0.992 pathogenic ✓ 해석 →
E271* Pathogenic — 미적재 해석 →
E271* Pathogenic — 미적재 해석 →
E271K Conflicting classifications of pathogeni 0.953 pathogenic 해석 →
E271V Likely pathogenic 0.946 pathogenic ✓ 해석 →
E285* Pathogenic — 미적재 해석 →
E285K Pathogenic/Likely pathogenic 0.974 pathogenic ✓ 해석 →
E285V Pathogenic 0.981 pathogenic ✓ 해석 →
E286* Pathogenic — 미적재 해석 →
E286A Likely pathogenic 0.882 pathogenic ✓ 해석 →
E286G Conflicting classifications of pathogeni 0.893 pathogenic 해석 →
E286K Pathogenic/Likely pathogenic 0.948 pathogenic ✓ 해석 →
E286Q Conflicting classifications of pathogeni 0.897 pathogenic 해석 →
E286V Conflicting classifications of pathogeni 0.915 pathogenic 해석 →
E294* Pathogenic — 미적재 해석 →
E298* Pathogenic — 미적재 해석 →
E326* Pathogenic — 미적재 해석 →
E326V Likely pathogenic 0.345 ambiguous 해석 →
E336* Likely pathogenic — 미적재 해석 →
E339* Pathogenic — 미적재 해석 →
E339* Pathogenic — 미적재 해석 →
E346* Pathogenic — 미적재 해석 →
E349* Pathogenic/Likely pathogenic — 미적재 해석 →
E51* Pathogenic — 미적재 해석 →
E56* Likely pathogenic — 미적재 해석 →
E62* Pathogenic — 미적재 해석 →
E68* Pathogenic/Likely pathogenic — 미적재 해석 →
F109C Likely pathogenic 0.984 pathogenic ✓ 해석 →
F109I Likely pathogenic 0.957 pathogenic ✓ 해석 →
F109V Conflicting classifications of pathogeni 0.975 pathogenic 해석 →
F113C Pathogenic 0.968 pathogenic ✓ 해석 →
F113I Pathogenic/Likely pathogenic 0.926 pathogenic ✓ 해석 →
F113L Pathogenic 0.996 pathogenic ✓ 해석 →
F113L Likely pathogenic 0.996 pathogenic ✓ 해석 →
F113L Pathogenic 0.996 pathogenic ✓ 해석 →
F113S Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
F113V Conflicting classifications of pathogeni 0.945 pathogenic 해석 →
F134C Likely pathogenic 0.999 pathogenic ✓ 해석 →
F134I Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
F134L Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
F134L Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
F134L Uncertain significance 1.000 pathogenic 해석 →
F134V Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
F270C Conflicting classifications of pathogeni 0.961 pathogenic 해석 →
F270I Conflicting classifications of pathogeni 0.915 pathogenic 해석 →
F270L Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
F270L Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
F270S Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
F270V Pathogenic 0.882 pathogenic ✓ 해석 →
F341S Likely pathogenic 0.994 pathogenic ✓ 해석 →
G105D Conflicting classifications of pathogeni 0.979 pathogenic 해석 →
G105R Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
G105S Pathogenic/Likely pathogenic 0.956 pathogenic ✓ 해석 →
G105V Conflicting classifications of pathogeni 0.987 pathogenic 해석 →
G154D Uncertain significance 0.261 benign 해석 →
G154S Uncertain significance 0.153 benign 해석 →
G154V Conflicting classifications of pathogeni 0.582 pathogenic 해석 →
G187R Conflicting classifications of pathogeni 0.649 pathogenic 해석 →
G199* Pathogenic — 미적재 해석 →
G199V Likely pathogenic 0.969 pathogenic ✓ 해석 →
G244A Pathogenic/Likely pathogenic 0.988 pathogenic ✓ 해석 →
G244C Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
G244D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G244S Pathogenic 0.991 pathogenic ✓ 해석 →
G244V Likely pathogenic 0.997 pathogenic ✓ 해석 →
G245A Conflicting classifications of pathogeni 0.986 pathogenic 해석 →
G245C Pathogenic 0.997 pathogenic ✓ 해석 →
G245D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G245D Pathogenic 0.999 pathogenic ✓ 해석 →
G245R Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
G245S Pathogenic 0.973 pathogenic ✓ 해석 →
G245V Pathogenic 0.997 pathogenic ✓ 해석 →
G262V Conflicting classifications of pathogeni 0.988 pathogenic 해석 →
G266* Pathogenic — 미적재 해석 →
G266* Pathogenic — 미적재 해석 →
G266E Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G266R Pathogenic 0.999 pathogenic ✓ 해석 →
G266R Pathogenic 0.999 pathogenic ✓ 해석 →
G266V Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
G279E Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
G279R Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
G325* Pathogenic/Likely pathogenic — 미적재 해석 →
G325V Conflicting classifications of pathogeni 0.146 benign 해석 →
G334R Conflicting classifications of pathogeni 0.989 pathogenic 해석 →
G334R Uncertain significance 0.989 pathogenic 해석 →
G334W Likely pathogenic 0.985 pathogenic ✓ 해석 →
H168L Pathogenic 0.753 pathogenic ✓ 해석 →
H168P Likely pathogenic 0.965 pathogenic ✓ 해석 →
H168R Conflicting classifications of pathogeni 0.867 pathogenic 해석 →
H178D Pathogenic 0.999 pathogenic ✓ 해석 →
H178P Conflicting classifications of pathogeni 0.981 pathogenic 해석 →
H178Q Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
H178Q Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
H179D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
H179L Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
H179N Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
H179P Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
H179Q Pathogenic 0.999 pathogenic ✓ 해석 →
H179Q Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
H179R Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
H179Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
H193D Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
H193L Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
H193N Pathogenic/Likely pathogenic 0.985 pathogenic ✓ 해석 →
H193P Pathogenic 0.998 pathogenic ✓ 해석 →
H193Q Conflicting classifications of pathogeni 0.998 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.