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

COL2A1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
442
✓ 둘 다 양성
0
⚠ CV=병원성 / AM=양성
3
⚠ CV=양성 / AM=병원성
0
— AM 미적재
55
AM ↔ ClinVar 비교 가능 변이 445건 중 442건 일치 / 3건 불일치 — 일치도 99.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1410D Likely pathogenic 0.993 pathogenic ✓ 해석 →
A181V Likely pathogenic 0.465 ambiguous 해석 →
A302V Pathogenic/Likely pathogenic 0.079 benign ⚠ 해석 →
A377T Pathogenic 0.119 benign ⚠ 해석 →
C1323* Pathogenic — 미적재 해석 →
C1323S Pathogenic 0.998 pathogenic ✓ 해석 →
C1323W Pathogenic 0.997 pathogenic ✓ 해석 →
C1438* Pathogenic — 미적재 해석 →
C1485R Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
C34* Pathogenic — 미적재 해석 →
C34R Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
C34Y Likely pathogenic 0.994 pathogenic ✓ 해석 →
C52* Pathogenic/Likely pathogenic — 미적재 해석 →
C57Y Pathogenic 0.999 pathogenic ✓ 해석 →
C64* Pathogenic — 미적재 해석 →
C75* Pathogenic — 미적재 해석 →
C75F Likely pathogenic 0.959 pathogenic ✓ 해석 →
C86* Pathogenic — 미적재 해석 →
C89* Pathogenic — 미적재 해석 →
D1219H Likely pathogenic 0.951 pathogenic ✓ 해석 →
D1219Y Conflicting classifications of pathogeni 0.943 pathogenic 해석 →
D1309H Pathogenic 0.996 pathogenic ✓ 해석 →
D1309N Conflicting classifications of pathogeni 0.989 pathogenic 해석 →
D1469Y Pathogenic 0.991 pathogenic ✓ 해석 →
D584* Pathogenic — 미적재 해석 →
D65N Conflicting classifications of pathogeni 0.719 pathogenic 해석 →
E1037* Likely pathogenic — 미적재 해석 →
E130* Pathogenic/Likely pathogenic — 미적재 해석 →
E1318* Pathogenic — 미적재 해석 →
E1321* Pathogenic — 미적재 해석 →
E1351* Pathogenic — 미적재 해석 →
E154* Pathogenic — 미적재 해석 →
E189* Pathogenic — 미적재 해석 →
E310* Pathogenic — 미적재 해석 →
E457* Pathogenic — 미적재 해석 →
E466* Pathogenic — 미적재 해석 →
E487* Pathogenic — 미적재 해석 →
E652G Likely pathogenic 0.506 ambiguous 해석 →
E955* Pathogenic — 미적재 해석 →
E958* Pathogenic — 미적재 해석 →
E968* Pathogenic — 미적재 해석 →
G1005D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1005S Pathogenic/Likely pathogenic 0.944 pathogenic ✓ 해석 →
G1008C Likely pathogenic 0.991 pathogenic ✓ 해석 →
G1008V Pathogenic 0.984 pathogenic ✓ 해석 →
G1014E Pathogenic 0.995 pathogenic ✓ 해석 →
G1014R Pathogenic 0.987 pathogenic ✓ 해석 →
G1017D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1026A Likely pathogenic 0.882 pathogenic ✓ 해석 →
G1026D Pathogenic 0.998 pathogenic ✓ 해석 →
G1029C Pathogenic/Likely pathogenic 0.988 pathogenic ✓ 해석 →
G1038E Likely pathogenic 0.994 pathogenic ✓ 해석 →
G104* Pathogenic — 미적재 해석 →
G1041S Pathogenic 0.830 pathogenic ✓ 해석 →
G1044A Likely pathogenic 0.882 pathogenic ✓ 해석 →
G1044S Likely pathogenic 0.886 pathogenic ✓ 해석 →
G1047S Likely pathogenic 0.900 pathogenic ✓ 해석 →
G1050D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1050V Likely pathogenic 0.977 pathogenic ✓ 해석 →
G1053A Likely pathogenic 0.580 pathogenic ✓ 해석 →
G1053E Pathogenic 0.996 pathogenic ✓ 해석 →
G1053R Likely pathogenic 0.989 pathogenic ✓ 해석 →
G1053V Likely pathogenic 0.964 pathogenic ✓ 해석 →
G1059A Likely pathogenic 0.901 pathogenic ✓ 해석 →
G1065E Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1068E Pathogenic 0.995 pathogenic ✓ 해석 →
G1071E Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1074S Pathogenic 0.825 pathogenic ✓ 해석 →
G1077V Likely pathogenic 0.964 pathogenic ✓ 해석 →
G1080D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1080R Likely pathogenic 0.993 pathogenic ✓ 해석 →
G1080S Likely pathogenic 0.861 pathogenic ✓ 해석 →
G1086E Likely pathogenic 0.995 pathogenic ✓ 해석 →
G1086R Likely pathogenic 0.995 pathogenic ✓ 해석 →
G1089E Likely pathogenic 0.995 pathogenic ✓ 해석 →
G1089R Pathogenic 0.991 pathogenic ✓ 해석 →
G1092D Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
G1095C Pathogenic 0.990 pathogenic ✓ 해석 →
G1095S Pathogenic 0.920 pathogenic ✓ 해석 →
G1098E Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1101R Pathogenic 0.994 pathogenic ✓ 해석 →
G1104E Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1107E Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1107R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1110A Likely pathogenic 0.923 pathogenic ✓ 해석 →
G1110C Pathogenic 0.991 pathogenic ✓ 해석 →
G1110R Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1110S Pathogenic/Likely pathogenic 0.953 pathogenic ✓ 해석 →
G1116C Pathogenic 0.993 pathogenic ✓ 해석 →
G1116D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1122E Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1122R Likely pathogenic 0.987 pathogenic ✓ 해석 →
G1125S Likely pathogenic 0.770 pathogenic ✓ 해석 →
G1128R Pathogenic 0.998 pathogenic ✓ 해석 →
G1134D Pathogenic 0.998 pathogenic ✓ 해석 →
G1134S Likely pathogenic 0.950 pathogenic ✓ 해석 →
G1143S Pathogenic 0.897 pathogenic ✓ 해석 →
G1146A Likely pathogenic 0.637 pathogenic ✓ 해석 →
G1146C Likely pathogenic 0.946 pathogenic ✓ 해석 →
G1146D Likely pathogenic 0.995 pathogenic ✓ 해석 →
G1146S Pathogenic/Likely pathogenic 0.726 pathogenic ✓ 해석 →
G1149E Likely pathogenic 0.994 pathogenic ✓ 해석 →
G1152D Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
G1152R Pathogenic 0.991 pathogenic ✓ 해석 →
G1152S Likely pathogenic 0.850 pathogenic ✓ 해석 →
G1152V Likely pathogenic 0.960 pathogenic ✓ 해석 →
G1155D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G1155R Pathogenic 0.991 pathogenic ✓ 해석 →
G1155S Pathogenic/Likely pathogenic 0.837 pathogenic ✓ 해석 →
G1155V Pathogenic 0.975 pathogenic ✓ 해석 →
G1155V Pathogenic 0.975 pathogenic ✓ 해석 →
G1158R Likely pathogenic 0.995 pathogenic ✓ 해석 →
G1164D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1164S Pathogenic 0.948 pathogenic ✓ 해석 →
G1170A Likely pathogenic 0.841 pathogenic ✓ 해석 →
G1170R Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1170S Pathogenic 0.918 pathogenic ✓ 해석 →
G1173R Pathogenic 0.989 pathogenic ✓ 해석 →
G1176D Likely pathogenic 0.997 pathogenic ✓ 해석 →
G1176S Pathogenic 0.801 pathogenic ✓ 해석 →
G1179E Likely pathogenic 0.998 pathogenic ✓ 해석 →
G1182D Pathogenic 0.999 pathogenic ✓ 해석 →
G1185E Pathogenic 1.000 pathogenic ✓ 해석 →
G1185R Pathogenic 0.998 pathogenic ✓ 해석 →
G1188A Likely pathogenic 0.962 pathogenic ✓ 해석 →
G1194D Pathogenic 0.996 pathogenic ✓ 해석 →
G1197A Pathogenic/Likely pathogenic 0.800 pathogenic ✓ 해석 →
G1197D Pathogenic 0.994 pathogenic ✓ 해석 →
G1197R Pathogenic 0.994 pathogenic ✓ 해석 →
G1197S Pathogenic/Likely pathogenic 0.823 pathogenic ✓ 해석 →
G1200D Pathogenic 0.998 pathogenic ✓ 해석 →
G1206A Pathogenic 0.829 pathogenic ✓ 해석 →
G1209C Likely pathogenic 0.984 pathogenic ✓ 해석 →
G1209V Likely pathogenic 0.980 pathogenic ✓ 해석 →
G1212V Likely pathogenic 0.976 pathogenic ✓ 해석 →
G1227* Pathogenic — 미적재 해석 →
G1305A Conflicting classifications of pathogeni 0.923 pathogenic 해석 →
G1305D Pathogenic 0.991 pathogenic ✓ 해석 →
G1305S Likely pathogenic 0.917 pathogenic ✓ 해석 →
G156R Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
G168C Likely pathogenic 0.876 pathogenic ✓ 해석 →
G201E Conflicting classifications of pathogeni 0.962 pathogenic 해석 →
G204D Likely pathogenic 0.995 pathogenic ✓ 해석 →
G204R Likely pathogenic 0.996 pathogenic ✓ 해석 →
G207* Pathogenic — 미적재 해석 →
G207R Pathogenic 0.997 pathogenic ✓ 해석 →
G207R Pathogenic 0.997 pathogenic ✓ 해석 →
G207V Likely pathogenic 0.985 pathogenic ✓ 해석 →
G210R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G213D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G216C Likely pathogenic 0.979 pathogenic ✓ 해석 →
G216D Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
G219E Pathogenic 0.998 pathogenic ✓ 해석 →
G219R Pathogenic 0.996 pathogenic ✓ 해석 →
G222R Pathogenic 0.998 pathogenic ✓ 해석 →
G222R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G225D Pathogenic 0.996 pathogenic ✓ 해석 →
G228D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G231D Likely pathogenic 0.997 pathogenic ✓ 해석 →
G231R Pathogenic 0.992 pathogenic ✓ 해석 →
G231S Likely pathogenic 0.799 pathogenic ✓ 해석 →
G234D Likely pathogenic 0.992 pathogenic ✓ 해석 →
G234V Likely pathogenic 0.953 pathogenic ✓ 해석 →
G237R Likely pathogenic 0.989 pathogenic ✓ 해석 →
G240C Likely pathogenic 0.993 pathogenic ✓ 해석 →
G240D Pathogenic 0.998 pathogenic ✓ 해석 →
G243D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G243V Likely pathogenic 0.982 pathogenic ✓ 해석 →
G246D Likely pathogenic 0.998 pathogenic ✓ 해석 →
G246V Pathogenic 0.977 pathogenic ✓ 해석 →
G255S Likely pathogenic 0.714 pathogenic ✓ 해석 →
G261* Pathogenic — 미적재 해석 →
G267D Pathogenic 0.997 pathogenic ✓ 해석 →
G276C Likely pathogenic 0.997 pathogenic ✓ 해석 →
G276D Likely pathogenic 1.000 pathogenic ✓ 해석 →
G276V Likely pathogenic 0.997 pathogenic ✓ 해석 →
G279* Pathogenic — 미적재 해석 →
G279R Likely pathogenic 0.999 pathogenic ✓ 해석 →
G288D Likely pathogenic 0.999 pathogenic ✓ 해석 →
G291V Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
G294V Likely pathogenic 0.983 pathogenic ✓ 해석 →
G297D Likely pathogenic 0.996 pathogenic ✓ 해석 →
G297S Likely pathogenic 0.818 pathogenic ✓ 해석 →
G300E Likely pathogenic 0.995 pathogenic ✓ 해석 →
G300V Likely pathogenic 0.987 pathogenic ✓ 해석 →
G303D Pathogenic 0.996 pathogenic ✓ 해석 →
G303V Likely pathogenic 0.963 pathogenic ✓ 해석 →
G306D Pathogenic 0.996 pathogenic ✓ 해석 →
G309D Likely pathogenic 0.997 pathogenic ✓ 해석 →
G309V Pathogenic 0.985 pathogenic ✓ 해석 →
G315A Likely pathogenic 0.776 pathogenic ✓ 해석 →
G318R Likely pathogenic 0.991 pathogenic ✓ 해석 →
G318V Likely pathogenic 0.987 pathogenic ✓ 해석 →
G324D Pathogenic 0.998 pathogenic ✓ 해석 →
G327V Pathogenic 0.992 pathogenic ✓ 해석 →
G330S Likely pathogenic 0.954 pathogenic ✓ 해석 →
G333R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G333R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G333V Pathogenic 0.994 pathogenic ✓ 해석 →
G336D Pathogenic 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.