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

COL3A1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
468
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
0
— AM 미적재
30
AM ↔ ClinVar 비교 가능 변이 470건 중 468건 일치 / 2건 불일치 — 일치도 99.6%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*1467Q Pathogenic — 미적재 해석 →
C50* Pathogenic — 미적재 해석 →
C74* Pathogenic — 미적재 해석 →
D1288V Pathogenic 0.984 pathogenic ✓ 해석 →
E1009* Pathogenic — 미적재 해석 →
E1223* Pathogenic — 미적재 해석 →
E1423* Conflicting classifications of pathogeni — 미적재 해석 →
E241K Pathogenic/Likely pathogenic 0.790 pathogenic ✓ 해석 →
E397* Likely pathogenic — 미적재 해석 →
E448K Conflicting classifications of pathogeni 0.714 pathogenic 해석 →
E451K Pathogenic/Likely pathogenic 0.580 pathogenic ✓ 해석 →
E682K Pathogenic 0.486 ambiguous 해석 →
E730* Pathogenic — 미적재 해석 →
E832* Pathogenic — 미적재 해석 →
E931K Conflicting classifications of pathogeni 0.330 benign 해석 →
E979* Pathogenic — 미적재 해석 →
F1456L Likely pathogenic 0.989 pathogenic ✓ 해석 →
F1456S Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
G1005A Likely pathogenic 0.675 pathogenic ✓ 해석 →
G1008D Pathogenic 0.996 pathogenic ✓ 해석 →
G1011E Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1014E Pathogenic 0.998 pathogenic ✓ 해석 →
G1014R Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
G1017R Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1017V Pathogenic 0.985 pathogenic ✓ 해석 →
G1020C Likely pathogenic 0.979 pathogenic ✓ 해석 →
G1020D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1023D Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
G1026A Likely pathogenic 0.763 pathogenic ✓ 해석 →
G1026E Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1026V Likely pathogenic 0.977 pathogenic ✓ 해석 →
G1029C Likely pathogenic 0.947 pathogenic ✓ 해석 →
G1032V Pathogenic 0.981 pathogenic ✓ 해석 →
G1035C Likely pathogenic 0.991 pathogenic ✓ 해석 →
G1035S Likely pathogenic 0.937 pathogenic ✓ 해석 →
G1035V Likely pathogenic 0.989 pathogenic ✓ 해석 →
G1038R Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
G1041A Likely pathogenic 0.669 pathogenic ✓ 해석 →
G1041R Likely pathogenic 0.992 pathogenic ✓ 해석 →
G1041V Pathogenic 0.961 pathogenic ✓ 해석 →
G1047D Pathogenic 0.997 pathogenic ✓ 해석 →
G1050D Pathogenic 0.997 pathogenic ✓ 해석 →
G1050V Pathogenic 0.948 pathogenic ✓ 해석 →
G1053A Likely pathogenic 0.743 pathogenic ✓ 해석 →
G1053D Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1053R Pathogenic 0.990 pathogenic ✓ 해석 →
G1056D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1056S Pathogenic/Likely pathogenic 0.866 pathogenic ✓ 해석 →
G1059V Pathogenic 0.930 pathogenic ✓ 해석 →
G1062D Likely pathogenic 0.991 pathogenic ✓ 해석 →
G1062S Likely pathogenic 0.632 pathogenic ✓ 해석 →
G1065E Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
G1065R Pathogenic/Likely pathogenic 0.988 pathogenic ✓ 해석 →
G1068C Likely pathogenic 0.923 pathogenic ✓ 해석 →
G1068D Likely pathogenic 0.992 pathogenic ✓ 해석 →
G1068V Pathogenic 0.904 pathogenic ✓ 해석 →
G1071V Pathogenic/Likely pathogenic 0.911 pathogenic ✓ 해석 →
G1074D Likely pathogenic 0.992 pathogenic ✓ 해석 →
G1074S Pathogenic 0.713 pathogenic ✓ 해석 →
G1074V Likely pathogenic 0.932 pathogenic ✓ 해석 →
G1077S Pathogenic/Likely pathogenic 0.811 pathogenic ✓ 해석 →
G1077V Pathogenic 0.951 pathogenic ✓ 해석 →
G1080D Pathogenic 0.996 pathogenic ✓ 해석 →
G1083D Pathogenic 0.994 pathogenic ✓ 해석 →
G1086V Pathogenic 0.962 pathogenic ✓ 해석 →
G1089D Pathogenic 0.995 pathogenic ✓ 해석 →
G1089V Likely pathogenic 0.969 pathogenic ✓ 해석 →
G1092A Pathogenic/Likely pathogenic 0.786 pathogenic ✓ 해석 →
G1092C Pathogenic 0.975 pathogenic ✓ 해석 →
G1092V Pathogenic 0.983 pathogenic ✓ 해석 →
G1095D Pathogenic 0.996 pathogenic ✓ 해석 →
G1095V Pathogenic 0.989 pathogenic ✓ 해석 →
G1098R Likely pathogenic 0.984 pathogenic ✓ 해석 →
G1098V Pathogenic 0.983 pathogenic ✓ 해석 →
G1101A Likely pathogenic 0.779 pathogenic ✓ 해석 →
G1101E Pathogenic 0.994 pathogenic ✓ 해석 →
G1101R Pathogenic 0.991 pathogenic ✓ 해석 →
G1107A Likely pathogenic 0.947 pathogenic ✓ 해석 →
G1107R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1110* Likely pathogenic — 미적재 해석 →
G1110E Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1113D Likely pathogenic 0.995 pathogenic ✓ 해석 →
G1116V Pathogenic/Likely pathogenic 0.942 pathogenic ✓ 해석 →
G1119D Likely pathogenic 0.993 pathogenic ✓ 해석 →
G1122V Likely pathogenic 0.904 pathogenic ✓ 해석 →
G1125D Likely pathogenic 0.993 pathogenic ✓ 해석 →
G1125S Likely pathogenic 0.663 pathogenic ✓ 해석 →
G1128V Likely pathogenic 0.960 pathogenic ✓ 해석 →
G1131S Likely pathogenic 0.817 pathogenic ✓ 해석 →
G1131V Likely pathogenic 0.981 pathogenic ✓ 해석 →
G1134A Likely pathogenic 0.803 pathogenic ✓ 해석 →
G1137D Pathogenic 0.998 pathogenic ✓ 해석 →
G1140E Pathogenic 0.998 pathogenic ✓ 해석 →
G1146E Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1149D Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1158D Pathogenic 0.999 pathogenic ✓ 해석 →
G1158R Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1161E Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1161V Pathogenic 0.995 pathogenic ✓ 해석 →
G1164E Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1164R Pathogenic 0.998 pathogenic ✓ 해석 →
G1164R Pathogenic 0.998 pathogenic ✓ 해석 →
G1164V Pathogenic 0.994 pathogenic ✓ 해석 →
G1164W Pathogenic 0.999 pathogenic ✓ 해석 →
G1167C Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1167D Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G1167E Pathogenic 0.998 pathogenic ✓ 해석 →
G1167R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1167S Pathogenic 0.960 pathogenic ✓ 해석 →
G1167V Pathogenic 0.995 pathogenic ✓ 해석 →
G1170D Pathogenic 0.997 pathogenic ✓ 해석 →
G1170S Pathogenic/Likely pathogenic 0.916 pathogenic ✓ 해석 →
G1170V Pathogenic 0.991 pathogenic ✓ 해석 →
G1173E Likely pathogenic 0.993 pathogenic ✓ 해석 →
G1173R Likely pathogenic 0.988 pathogenic ✓ 해석 →
G1173V Pathogenic 0.959 pathogenic ✓ 해석 →
G1176D Pathogenic 0.983 pathogenic ✓ 해석 →
G1176E Pathogenic 0.990 pathogenic ✓ 해석 →
G1176V Pathogenic 0.928 pathogenic ✓ 해석 →
G1179R Pathogenic 0.987 pathogenic ✓ 해석 →
G1179V Likely pathogenic 0.960 pathogenic ✓ 해석 →
G1182E Pathogenic 0.993 pathogenic ✓ 해석 →
G1182R Pathogenic 0.979 pathogenic ✓ 해석 →
G1182R Pathogenic 0.979 pathogenic ✓ 해석 →
G1182V Pathogenic 0.951 pathogenic ✓ 해석 →
G1185D Likely pathogenic 0.994 pathogenic ✓ 해석 →
G1185V Pathogenic 0.965 pathogenic ✓ 해석 →
G1188E Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1188R Pathogenic 0.995 pathogenic ✓ 해석 →
G1191D Likely pathogenic 0.983 pathogenic ✓ 해석 →
G1191V Likely pathogenic 0.909 pathogenic ✓ 해석 →
G1194D Likely pathogenic 0.931 pathogenic ✓ 해석 →
G1194R Conflicting classifications of pathogeni 0.974 pathogenic 해석 →
G1284E Likely pathogenic 0.972 pathogenic ✓ 해석 →
G136R Pathogenic 0.983 pathogenic ✓ 해석 →
G171S Likely pathogenic 0.083 benign ⚠ 해석 →
G177A Likely pathogenic 0.335 benign ⚠ 해석 →
G177S Likely pathogenic 0.440 ambiguous 해석 →
G177V Likely pathogenic 0.639 pathogenic ✓ 해석 →
G180D Pathogenic 0.995 pathogenic ✓ 해석 →
G183A Pathogenic 0.651 pathogenic ✓ 해석 →
G183C Pathogenic 0.948 pathogenic ✓ 해석 →
G183D Pathogenic 0.995 pathogenic ✓ 해석 →
G183R Pathogenic 0.987 pathogenic ✓ 해석 →
G183S Pathogenic/Likely pathogenic 0.692 pathogenic ✓ 해석 →
G183V Pathogenic 0.886 pathogenic ✓ 해석 →
G186S Pathogenic 0.594 pathogenic ✓ 해석 →
G189R Pathogenic 0.972 pathogenic ✓ 해석 →
G189S Likely pathogenic 0.563 ambiguous 해석 →
G192V Pathogenic 0.912 pathogenic ✓ 해석 →
G195R Pathogenic 0.983 pathogenic ✓ 해석 →
G195R Pathogenic 0.983 pathogenic ✓ 해석 →
G195V Likely pathogenic 0.928 pathogenic ✓ 해석 →
G198E Likely pathogenic 0.995 pathogenic ✓ 해석 →
G198R Pathogenic 0.991 pathogenic ✓ 해석 →
G201* Likely pathogenic — 미적재 해석 →
G201R Pathogenic 0.994 pathogenic ✓ 해석 →
G204C Likely pathogenic 0.974 pathogenic ✓ 해석 →
G204D Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
G204S Pathogenic 0.749 pathogenic ✓ 해석 →
G207R Pathogenic 0.979 pathogenic ✓ 해석 →
G207V Pathogenic 0.953 pathogenic ✓ 해석 →
G207W Pathogenic 0.991 pathogenic ✓ 해석 →
G210V Pathogenic 0.890 pathogenic ✓ 해석 →
G213D Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
G213E Likely pathogenic 0.993 pathogenic ✓ 해석 →
G213S Pathogenic 0.630 pathogenic ✓ 해석 →
G216E Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
G219A Pathogenic 0.634 pathogenic ✓ 해석 →
G219C Pathogenic 0.957 pathogenic ✓ 해석 →
G219D Likely pathogenic 0.992 pathogenic ✓ 해석 →
G222* Pathogenic — 미적재 해석 →
G222D Pathogenic 0.996 pathogenic ✓ 해석 →
G222V Pathogenic 0.954 pathogenic ✓ 해석 →
G225A Pathogenic/Likely pathogenic 0.715 pathogenic ✓ 해석 →
G225D Pathogenic 0.997 pathogenic ✓ 해석 →
G225V Likely pathogenic 0.946 pathogenic ✓ 해석 →
G228E Pathogenic 0.994 pathogenic ✓ 해석 →
G228R Pathogenic 0.985 pathogenic ✓ 해석 →
G228R Likely pathogenic 0.985 pathogenic ✓ 해석 →
G231R Likely pathogenic 0.980 pathogenic ✓ 해석 →
G234D Pathogenic 0.998 pathogenic ✓ 해석 →
G237R Pathogenic 0.994 pathogenic ✓ 해석 →
G240R Pathogenic 0.987 pathogenic ✓ 해석 →
G240R Likely pathogenic 0.987 pathogenic ✓ 해석 →
G243E Pathogenic 0.995 pathogenic ✓ 해석 →
G243R Likely pathogenic 0.992 pathogenic ✓ 해석 →
G243V Likely pathogenic 0.958 pathogenic ✓ 해석 →
G246E Pathogenic 0.997 pathogenic ✓ 해석 →
G249C Likely pathogenic 0.958 pathogenic ✓ 해석 →
G249D Likely pathogenic 0.995 pathogenic ✓ 해석 →
G249S Likely pathogenic 0.759 pathogenic ✓ 해석 →
G249V Pathogenic 0.971 pathogenic ✓ 해석 →
G252C Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
G252D Pathogenic 0.994 pathogenic ✓ 해석 →
G252R Likely pathogenic 0.996 pathogenic ✓ 해석 →
G252S Pathogenic/Likely pathogenic 0.898 pathogenic ✓ 해석 →
G252V Pathogenic 0.960 pathogenic ✓ 해석 →
G255E Pathogenic 0.997 pathogenic ✓ 해석 →
G255V Pathogenic 0.971 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.