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

MET: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
10
✓ 둘 다 양성
14
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
475
AM ↔ ClinVar 비교 가능 변이 25건 중 24건 일치 / 1건 불일치 — 일치도 96%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
D1010N Uncertain significance 0.180 benign 해석 →
D1228N Pathogenic 0.848 pathogenic ✓ 해석 →
D1228Y Conflicting classifications of pathogeni 0.937 pathogenic 해석 →
F1168C Likely pathogenic 0.994 pathogenic ✓ 해석 →
F841V Pathogenic 0.599 pathogenic ✓ 해석 →
H1094R Pathogenic/Likely pathogenic 0.840 pathogenic ✓ 해석 →
K1244R Pathogenic 0.182 benign ⚠ 해석 →
L1195V Uncertain significance 0.964 pathogenic 해석 →
L900V Conflicting classifications of pathogeni 0.169 benign 해석 →
M1131T Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
M1250I Pathogenic 0.990 pathogenic ✓ 해석 →
M1250T Likely pathogenic 0.998 pathogenic ✓ 해석 →
T1096S Conflicting classifications of pathogeni 0.241 benign 해석 →
T1173I Uncertain significance 0.167 benign 해석 →
V1092I Pathogenic/Likely pathogenic 0.765 pathogenic ✓ 해석 →
V1092L Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
V1188L Pathogenic 0.983 pathogenic ✓ 해석 →
V1220I Pathogenic/Likely pathogenic 0.422 ambiguous 해석 →
Y1230C Conflicting classifications of pathogeni 0.661 pathogenic 해석 →
Y1234C Pathogenic; risk factor 0.998 pathogenic ✓ 해석 →
Y1356* Conflicting classifications of pathogeni — 미적재 해석 →
*1391C Uncertain significance — 미적재 해석 →
*1391Q Uncertain significance — 미적재 해석 →
*1391W Uncertain significance — 미적재 해석 →
A1005D Uncertain significance 0.341 ambiguous 해석 →
A1005T Uncertain significance 0.104 benign 해석 →
A1005V Uncertain significance 0.194 benign 해석 →
A105T Uncertain significance 0.082 benign 해석 →
A1065S Uncertain significance 0.125 benign 해석 →
A1065V Uncertain significance 0.292 benign 해석 →
A1108T Uncertain significance 0.993 pathogenic 해석 →
A1189T Uncertain significance 0.821 pathogenic 해석 →
A1196T Uncertain significance 0.433 ambiguous 해석 →
A1196V Uncertain significance 0.638 pathogenic 해석 →
A119D Uncertain significance 0.837 pathogenic 해석 →
A119S Uncertain significance 0.211 benign 해석 →
A119V Uncertain significance 0.177 benign 해석 →
A1206S Uncertain significance 0.950 pathogenic 해석 →
A1206T Uncertain significance 0.999 pathogenic 해석 →
A1207G Uncertain significance 0.933 pathogenic 해석 →
A1221D Uncertain significance 1.000 pathogenic 해석 →
A1221I Uncertain significance 1.000 pathogenic 해석 →
A1226S Uncertain significance 0.599 pathogenic 해석 →
A1243E Uncertain significance 0.936 pathogenic 해석 →
A1243L Uncertain significance 0.573 pathogenic 해석 →
A1243S Uncertain significance 0.271 benign 해석 →
A1243T Conflicting classifications of pathogeni 0.337 benign 해석 →
A1243V Uncertain significance 0.213 benign 해석 →
A1251G Uncertain significance 0.888 pathogenic 해석 →
A1281G Conflicting classifications of pathogeni 0.793 pathogenic 해석 →
A1281T Uncertain significance 0.660 pathogenic 해석 →
A1281V Uncertain significance 0.712 pathogenic 해석 →
A1324V Uncertain significance 0.194 benign 해석 →
A1339E Uncertain significance 0.111 benign 해석 →
A1339P Uncertain significance 0.626 pathogenic 해석 →
A1339P Uncertain significance 0.626 pathogenic 해석 →
A1339T Uncertain significance 0.060 benign 해석 →
A1339V Conflicting classifications of pathogeni 0.078 benign 해석 →
A1354D Uncertain significance 0.740 pathogenic 해석 →
A1354T Conflicting classifications of pathogeni 0.088 benign 해석 →
A1363S Uncertain significance 0.084 benign 해석 →
A1363T Benign/Likely benign 0.085 benign ✓ 해석 →
A1375S Uncertain significance 0.070 benign 해석 →
A1375T Conflicting classifications of pathogeni 0.063 benign 해석 →
A1375V Conflicting classifications of pathogeni 0.066 benign 해석 →
A1384G Conflicting classifications of pathogeni 0.078 benign 해석 →
A1384P Uncertain significance 0.074 benign 해석 →
A1384T Conflicting classifications of pathogeni 0.075 benign 해석 →
A1384V Uncertain significance 0.082 benign 해석 →
A179D Uncertain significance 0.129 benign 해석 →
A179S Uncertain significance 0.070 benign 해석 →
A179T Conflicting classifications of pathogeni 0.071 benign 해석 →
A179V Uncertain significance 0.086 benign 해석 →
A182P Uncertain significance 0.634 pathogenic 해석 →
A252T Uncertain significance 0.122 benign 해석 →
A252V Uncertain significance 0.281 benign 해석 →
A271T Uncertain significance 0.074 benign 해석 →
A271V Uncertain significance 0.134 benign 해석 →
A29E Uncertain significance 0.352 ambiguous 해석 →
A29G Uncertain significance 0.180 benign 해석 →
A29P Uncertain significance 0.276 benign 해석 →
A29S Uncertain significance 0.129 benign 해석 →
A29T Uncertain significance 0.164 benign 해석 →
A29V Benign/Likely benign 0.167 benign ✓ 해석 →
A319P Uncertain significance 0.992 pathogenic 해석 →
A319S Uncertain significance 0.147 benign 해석 →
A319T Uncertain significance 0.342 ambiguous 해석 →
A319V Uncertain significance 0.637 pathogenic 해석 →
A31E Uncertain significance 0.087 benign 해석 →
A31S Uncertain significance 0.080 benign 해석 →
A31V Conflicting classifications of pathogeni 0.067 benign 해석 →
A320T Uncertain significance 0.570 pathogenic 해석 →
A320V Conflicting classifications of pathogeni 0.737 pathogenic 해석 →
A327P Uncertain significance 0.120 benign 해석 →
A327S Uncertain significance 0.074 benign 해석 →
A330S Uncertain significance 0.133 benign 해석 →
A347S Uncertain significance 0.102 benign 해석 →
A347T Conflicting classifications of pathogeni 0.248 benign 해석 →
A347V Uncertain significance 0.433 ambiguous 해석 →
A354D Uncertain significance 0.190 benign 해석 →
A361P Uncertain significance 0.986 pathogenic 해석 →
A361S Conflicting classifications of pathogeni 0.170 benign 해석 →
A361T Uncertain significance 0.212 benign 해석 →
A361V Uncertain significance 0.315 benign 해석 →
A364S Uncertain significance 0.236 benign 해석 →
A364T Uncertain significance 0.289 benign 해석 →
A364V Uncertain significance 0.216 benign 해석 →
A3D Uncertain significance 0.113 benign 해석 →
A3T Conflicting classifications of pathogeni 0.074 benign 해석 →
A3V Uncertain significance 0.083 benign 해석 →
A411E Conflicting classifications of pathogeni 0.100 benign 해석 →
A411T Uncertain significance 0.072 benign 해석 →
A411V Conflicting classifications of pathogeni 0.075 benign 해석 →
A423D Uncertain significance 0.474 ambiguous 해석 →
A423G Uncertain significance 0.170 benign 해석 →
A423T Conflicting classifications of pathogeni 0.135 benign 해석 →
A423V Uncertain significance 0.206 benign 해석 →
A453T Uncertain significance 0.294 benign 해석 →
A453V Uncertain significance 0.277 benign 해석 →
A48E Uncertain significance 0.723 pathogenic 해석 →
A48G Conflicting classifications of pathogeni 0.274 benign 해석 →
A48T Likely benign 0.108 benign ✓ 해석 →
A48T Conflicting classifications of pathogeni 0.108 benign 해석 →
A48V Conflicting classifications of pathogeni 0.194 benign 해석 →
A532T Uncertain significance 0.130 benign 해석 →
A532V Uncertain significance 0.172 benign 해석 →
A564T Conflicting classifications of pathogeni 0.064 benign 해석 →
A564V Uncertain significance 0.095 benign 해석 →
A573T Uncertain significance 0.385 ambiguous 해석 →
A573V Uncertain significance 0.338 benign 해석 →
A5S Uncertain significance 0.088 benign 해석 →
A5T Conflicting classifications of pathogeni 0.075 benign 해석 →
A629S Conflicting classifications of pathogeni 0.084 benign 해석 →
A629V Uncertain significance 0.086 benign 해석 →
A66S Uncertain significance 0.171 benign 해석 →
A66T Uncertain significance 0.206 benign 해석 →
A66V Uncertain significance 0.430 ambiguous 해석 →
A670V Uncertain significance 0.145 benign 해석 →
A713T Uncertain significance 0.087 benign 해석 →
A721S Uncertain significance 0.071 benign 해석 →
A729S Uncertain significance 0.183 benign 해석 →
A729T Uncertain significance 0.256 benign 해석 →
A782E Uncertain significance 0.107 benign 해석 →
A782T Uncertain significance 0.074 benign 해석 →
A819G Uncertain significance 0.187 benign 해석 →
A819S Uncertain significance 0.182 benign 해석 →
A819T Conflicting classifications of pathogeni 0.136 benign 해석 →
A819V Uncertain significance 0.111 benign 해석 →
A82T Uncertain significance 0.082 benign 해석 →
A82V Conflicting classifications of pathogeni 0.141 benign 해석 →
A869E Uncertain significance 0.941 pathogenic 해석 →
A869T Uncertain significance 0.560 ambiguous 해석 →
A891G Uncertain significance 0.120 benign 해석 →
A891S Likely benign 0.078 benign ✓ 해석 →
A891V Uncertain significance 0.102 benign 해석 →
A8S Uncertain significance 0.089 benign 해석 →
A8T Conflicting classifications of pathogeni 0.075 benign 해석 →
A914E Uncertain significance 0.157 benign 해석 →
A914G Uncertain significance 0.144 benign 해석 →
A914T Uncertain significance 0.201 benign 해석 →
A936P Uncertain significance 0.366 ambiguous 해석 →
A936S Conflicting classifications of pathogeni 0.126 benign 해석 →
A936T Uncertain significance 0.080 benign 해석 →
A936V Conflicting classifications of pathogeni 0.062 benign 해석 →
A944T Conflicting classifications of pathogeni 0.076 benign 해석 →
A973G Uncertain significance 0.088 benign 해석 →
A973T Uncertain significance 0.103 benign 해석 →
A986S Uncertain significance 0.161 benign 해석 →
A986V Uncertain significance 0.286 benign 해석 →
C101R Uncertain significance 0.876 pathogenic 해석 →
C101Y Uncertain significance 0.837 pathogenic 해석 →
C1021R Uncertain significance 0.652 pathogenic 해석 →
C1021Y Uncertain significance 0.537 ambiguous 해석 →
C1091R Uncertain significance 0.910 pathogenic 해석 →
C1091Y Uncertain significance 0.857 pathogenic 해석 →
C1107S Uncertain significance 0.979 pathogenic 해석 →
C1146Y Uncertain significance 0.882 pathogenic 해석 →
C1308Y Uncertain significance 0.999 pathogenic 해석 →
C1319R Uncertain significance 1.000 pathogenic 해석 →
C1361G Uncertain significance 0.090 benign 해석 →
C1361R Uncertain significance 0.203 benign 해석 →
C1361Y Uncertain significance 0.130 benign 해석 →
C141F Uncertain significance 0.951 pathogenic 해석 →
C160R Uncertain significance 0.911 pathogenic 해석 →
C160W Uncertain significance 0.933 pathogenic 해석 →
C172G Uncertain significance 0.762 pathogenic 해석 →
C172S Uncertain significance 0.912 pathogenic 해석 →
C175S Uncertain significance 0.912 pathogenic 해석 →
C175Y Uncertain significance 0.841 pathogenic 해석 →
C26* Uncertain significance — 미적재 해석 →
C26R Uncertain significance 0.950 pathogenic 해석 →
C26Y Uncertain significance 0.863 pathogenic 해석 →
C282G Uncertain significance 0.897 pathogenic 해석 →
C282S Uncertain significance 0.953 pathogenic 해석 →
C298Y Uncertain significance 0.995 pathogenic 해석 →
C363R Uncertain significance 0.997 pathogenic 해석 →
C363Y Uncertain significance 0.996 pathogenic 해석 →
C385R Uncertain significance 0.960 pathogenic 해석 →
C385S Uncertain significance 0.954 pathogenic 해석 →
C385Y Uncertain significance 0.918 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.