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

FBN1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
439
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
60
AM ↔ ClinVar 비교 가능 변이 440건 중 439건 일치 / 1건 불일치 — 일치도 99.8%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1728* Pathogenic — 미적재 해석 →
A1728P Pathogenic 0.997 pathogenic ✓ 해석 →
A1728T Pathogenic 0.968 pathogenic ✓ 해석 →
A1728V Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
A2783D Pathogenic 0.994 pathogenic ✓ 해석 →
A686D Conflicting classifications of pathogeni 0.747 pathogenic 해석 →
A691P Conflicting classifications of pathogeni 0.986 pathogenic 해석 →
A705T Pathogenic 0.095 benign ⚠ 해석 →
A882T Pathogenic/Likely pathogenic 0.969 pathogenic ✓ 해석 →
A882V Pathogenic/Likely pathogenic 0.975 pathogenic ✓ 해석 →
C100* Pathogenic — 미적재 해석 →
C1008* Likely pathogenic — 미적재 해석 →
C1008R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1008S Pathogenic 0.999 pathogenic ✓ 해석 →
C100F Likely pathogenic 0.997 pathogenic ✓ 해석 →
C100R Pathogenic 0.999 pathogenic ✓ 해석 →
C100Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C102* Likely pathogenic — 미적재 해석 →
C102F Likely pathogenic 0.989 pathogenic ✓ 해석 →
C102R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C102S Likely pathogenic 0.994 pathogenic ✓ 해석 →
C102W Pathogenic 0.998 pathogenic ✓ 해석 →
C102Y Likely pathogenic 0.996 pathogenic ✓ 해석 →
C1032* Pathogenic — 미적재 해석 →
C1032R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1032Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1039R Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1039W Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1039Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1044* Pathogenic — 미적재 해석 →
C1044F Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1044G Pathogenic 0.994 pathogenic ✓ 해석 →
C1044S Pathogenic 1.000 pathogenic ✓ 해석 →
C1044Y Pathogenic 0.998 pathogenic ✓ 해석 →
C1053* Pathogenic — 미적재 해석 →
C1053G Likely pathogenic 0.995 pathogenic ✓ 해석 →
C1053S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1053W Pathogenic 0.998 pathogenic ✓ 해석 →
C1053Y Pathogenic 0.998 pathogenic ✓ 해석 →
C1055* Pathogenic/Likely pathogenic — 미적재 해석 →
C1055W Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1055Y Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1068* Pathogenic — 미적재 해석 →
C1068R Pathogenic 1.000 pathogenic ✓ 해석 →
C1068S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1068Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1074* Pathogenic — 미적재 해석 →
C1074R Pathogenic 1.000 pathogenic ✓ 해석 →
C1074Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1086G Pathogenic 0.996 pathogenic ✓ 해석 →
C1086R Pathogenic 0.999 pathogenic ✓ 해석 →
C1086S Pathogenic 1.000 pathogenic ✓ 해석 →
C1086Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1095S Likely pathogenic 1.000 pathogenic ✓ 해석 →
C1095S Pathogenic 1.000 pathogenic ✓ 해석 →
C1095Y Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1097F Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1097R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1097Y Pathogenic 0.998 pathogenic ✓ 해석 →
C1111* Pathogenic — 미적재 해석 →
C1111F Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1111G Likely pathogenic 0.996 pathogenic ✓ 해석 →
C1111S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1111Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1117F Pathogenic 0.998 pathogenic ✓ 해석 →
C1117R Pathogenic 0.999 pathogenic ✓ 해석 →
C1117Y Pathogenic 0.998 pathogenic ✓ 해석 →
C111G Likely pathogenic 0.986 pathogenic ✓ 해석 →
C111R Pathogenic 0.999 pathogenic ✓ 해석 →
C1124G Pathogenic 0.988 pathogenic ✓ 해석 →
C1124R Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
C1124S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1129R Pathogenic 0.999 pathogenic ✓ 해석 →
C1129Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1138F Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
C1138R Pathogenic 0.998 pathogenic ✓ 해석 →
C1138S Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1138Y Likely pathogenic 0.997 pathogenic ✓ 해석 →
C1140F Likely pathogenic 0.988 pathogenic ✓ 해석 →
C1140Y Likely pathogenic 0.996 pathogenic ✓ 해석 →
C1153F Pathogenic 0.992 pathogenic ✓ 해석 →
C1153R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1153Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1159R Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1159S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1159Y Pathogenic 0.997 pathogenic ✓ 해석 →
C1166* Pathogenic — 미적재 해석 →
C1166R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1166Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1171* Pathogenic — 미적재 해석 →
C1171R Pathogenic 0.999 pathogenic ✓ 해석 →
C1171W Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1171Y Pathogenic 0.998 pathogenic ✓ 해석 →
C1180R Pathogenic 0.998 pathogenic ✓ 해석 →
C1180Y Pathogenic 0.996 pathogenic ✓ 해석 →
C1182* Pathogenic — 미적재 해석 →
C1182S Pathogenic 0.997 pathogenic ✓ 해석 →
C1182Y Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C119* Pathogenic — 미적재 해석 →
C1195G Likely pathogenic 0.996 pathogenic ✓ 해석 →
C1195Y Likely pathogenic 0.999 pathogenic ✓ 해석 →
C119G Pathogenic 0.959 pathogenic ✓ 해석 →
C119R Likely pathogenic 0.996 pathogenic ✓ 해석 →
C119Y Likely pathogenic 0.996 pathogenic ✓ 해석 →
C1201* Pathogenic — 미적재 해석 →
C1201Y Likely pathogenic 0.997 pathogenic ✓ 해석 →
C1208* Pathogenic — 미적재 해석 →
C1208F Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
C1208W Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1212R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1212S Pathogenic 0.999 pathogenic ✓ 해석 →
C1212Y Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1221R Pathogenic 0.999 pathogenic ✓ 해석 →
C1221S Pathogenic 0.998 pathogenic ✓ 해석 →
C1221Y Pathogenic 0.996 pathogenic ✓ 해석 →
C1223* Pathogenic — 미적재 해석 →
C1223F Likely pathogenic 0.995 pathogenic ✓ 해석 →
C1223Y Pathogenic 0.998 pathogenic ✓ 해석 →
C1236G Likely pathogenic 0.990 pathogenic ✓ 해석 →
C1236R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1236Y Pathogenic 0.998 pathogenic ✓ 해석 →
C123F Pathogenic 0.997 pathogenic ✓ 해석 →
C123S Pathogenic 0.999 pathogenic ✓ 해석 →
C123Y Pathogenic 0.998 pathogenic ✓ 해석 →
C1242* Pathogenic — 미적재 해석 →
C1242R Pathogenic 0.999 pathogenic ✓ 해석 →
C1242W Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1242Y Pathogenic 0.998 pathogenic ✓ 해석 →
C1249G Pathogenic 0.993 pathogenic ✓ 해석 →
C1249S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1249Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1254R Pathogenic 0.999 pathogenic ✓ 해석 →
C1254Y Likely pathogenic 0.997 pathogenic ✓ 해석 →
C1263F Pathogenic 0.996 pathogenic ✓ 해석 →
C1263W Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1265* Pathogenic — 미적재 해석 →
C1265F Pathogenic 0.997 pathogenic ✓ 해석 →
C1265G Likely pathogenic 0.992 pathogenic ✓ 해석 →
C1265R Pathogenic 0.999 pathogenic ✓ 해석 →
C1265S Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1265Y Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1278S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1278W Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1278Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1284R Pathogenic 0.999 pathogenic ✓ 해석 →
C1284S Pathogenic 1.000 pathogenic ✓ 해석 →
C1284Y Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1291S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1296R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1296Y Likely pathogenic 0.999 pathogenic ✓ 해석 →
C129F Pathogenic 0.985 pathogenic ✓ 해석 →
C129G Pathogenic 0.980 pathogenic ✓ 해석 →
C129S Likely pathogenic 0.995 pathogenic ✓ 해석 →
C129W Likely pathogenic 0.996 pathogenic ✓ 해석 →
C129Y Pathogenic 0.995 pathogenic ✓ 해석 →
C1305* Likely pathogenic — 미적재 해석 →
C1305Y Pathogenic 0.999 pathogenic ✓ 해석 →
C1307W Likely pathogenic 0.996 pathogenic ✓ 해석 →
C1307Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1320F Likely pathogenic 0.995 pathogenic ✓ 해석 →
C1320R Pathogenic 0.999 pathogenic ✓ 해석 →
C1320S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1320S Pathogenic 0.999 pathogenic ✓ 해석 →
C1320Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1326R Pathogenic 0.999 pathogenic ✓ 해석 →
C1326S Pathogenic 0.999 pathogenic ✓ 해석 →
C1326W Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1326Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1333G Likely pathogenic 0.984 pathogenic ✓ 해석 →
C1333R Pathogenic 0.997 pathogenic ✓ 해석 →
C1333Y Pathogenic 0.998 pathogenic ✓ 해석 →
C1339S Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1339Y Pathogenic 0.998 pathogenic ✓ 해석 →
C134* Conflicting classifications of pathogeni — 미적재 해석 →
C1348F Pathogenic 0.992 pathogenic ✓ 해석 →
C1348R Pathogenic 0.998 pathogenic ✓ 해석 →
C1348W Pathogenic 0.996 pathogenic ✓ 해석 →
C1348Y Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
C134R Pathogenic 0.999 pathogenic ✓ 해석 →
C134Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1350* Pathogenic — 미적재 해석 →
C1350F Pathogenic 0.994 pathogenic ✓ 해석 →
C1350G Likely pathogenic 0.987 pathogenic ✓ 해석 →
C1350R Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1350S Likely pathogenic 0.997 pathogenic ✓ 해석 →
C1350Y Pathogenic 0.997 pathogenic ✓ 해석 →
C136* Pathogenic — 미적재 해석 →
C1361R Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1361Y Pathogenic 0.992 pathogenic ✓ 해석 →
C1367* Pathogenic — 미적재 해석 →
C1367R Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1367S Likely pathogenic 0.999 pathogenic ✓ 해석 →
C1367Y Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
C136F Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
C136G Pathogenic 0.991 pathogenic ✓ 해석 →
C136R Likely pathogenic 0.999 pathogenic ✓ 해석 →
C136S Likely pathogenic 0.998 pathogenic ✓ 해석 →
C136W Likely pathogenic 0.998 pathogenic ✓ 해석 →
C136Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1374* Likely pathogenic — 미적재 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.