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

H3-3A: AM vs ClinVar 일치도

54 변이
✓ 둘 다 병원성
18
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
36
AM ↔ ClinVar 비교 가능 변이 18건 중 18건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A112V Pathogenic 0.990 pathogenic ✓ 해석 →
A30T Likely pathogenic 0.397 ambiguous 해석 →
D82H Likely pathogenic 0.985 pathogenic ✓ 해석 →
G91R Uncertain significance 0.963 pathogenic 해석 →
I113M Likely pathogenic 0.936 pathogenic ✓ 해석 →
I113V Conflicting classifications of pathogeni 0.595 pathogenic 해석 →
M121I Pathogenic 0.989 pathogenic ✓ 해석 →
M121T Pathogenic 0.974 pathogenic ✓ 해석 →
N109I Pathogenic 0.966 pathogenic ✓ 해석 →
N109S Likely pathogenic 0.582 pathogenic ✓ 해석 →
P122L Conflicting classifications of pathogeni 0.954 pathogenic 해석 →
P122R Pathogenic/Likely pathogenic 0.965 pathogenic ✓ 해석 →
P31L Likely pathogenic 0.548 ambiguous 해석 →
Q126R Pathogenic/Likely pathogenic 0.887 pathogenic ✓ 해석 →
Q56K Likely pathogenic 0.994 pathogenic ✓ 해석 →
R129H Pathogenic/Likely pathogenic 0.950 pathogenic ✓ 해석 →
R18G Pathogenic 0.933 pathogenic ✓ 해석 →
R41C Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
R50C Likely pathogenic 0.993 pathogenic ✓ 해석 →
R73G Conflicting classifications of pathogeni 0.978 pathogenic 해석 →
R84G Likely pathogenic 0.973 pathogenic ✓ 해석 →
R9G Likely pathogenic 0.908 pathogenic ✓ 해석 →
T23I Pathogenic/Likely pathogenic 0.902 pathogenic ✓ 해석 →
T46I Pathogenic/Likely pathogenic 0.984 pathogenic ✓ 해석 →
A115G Likely benign 0.453 ambiguous 해석 →
A48M Uncertain significance 0.997 pathogenic 해석 →
A48V Uncertain significance 0.992 pathogenic 해석 →
A88T Uncertain significance 0.215 benign 해석 →
D78G Uncertain significance 0.885 pathogenic 해석 →
D82G Uncertain significance 0.887 pathogenic 해석 →
D82N not provided 0.872 pathogenic 해석 →
F85L Uncertain significance 0.998 pathogenic 해석 →
G103C Uncertain significance 0.862 pathogenic 해석 →
G103D Uncertain significance 0.982 pathogenic 해석 →
G35R other 0.981 pathogenic 해석 →
G45D Uncertain significance 1.000 pathogenic 해석 →
K80T Uncertain significance 0.954 pathogenic 해석 →
L62R Uncertain significance 0.992 pathogenic 해석 →
L83R Uncertain significance 0.992 pathogenic 해석 →
P44L Uncertain significance 0.988 pathogenic 해석 →
Q20P Uncertain significance 0.514 ambiguous 해석 →
R117C Uncertain significance 0.998 pathogenic 해석 →
R129C Uncertain significance 0.944 pathogenic 해석 →
R130C Uncertain significance 0.993 pathogenic 해석 →
R135C Uncertain significance 0.987 pathogenic 해석 →
R50H Uncertain significance 0.989 pathogenic 해석 →
S29R Uncertain significance 0.980 pathogenic 해석 →
T108A Uncertain significance 0.488 ambiguous 해석 →
T46N Uncertain significance 0.986 pathogenic 해석 →
T7S Uncertain significance 0.775 pathogenic 해석 →
V36A Uncertain significance 0.839 pathogenic 해석 →
G35L - 0.950 pathogenic 해석 →
G35W - 0.987 pathogenic 해석 →
K28M - 0.974 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.