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

LRRK2: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
4
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
4
⚠ CV=양성 / AM=병원성
0
— AM 미적재
486
AM ↔ ClinVar 비교 가능 변이 14건 중 10건 일치 / 4건 불일치 — 일치도 71.4%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1440P Likely pathogenic 0.977 pathogenic ✓ 해석 →
G2019S Pathogenic/Likely pathogenic; risk facto 0.936 pathogenic ✓ 해석 →
G2385R Conflicting classifications of pathogeni 0.132 benign 해석 →
I1122V Pathogenic 0.094 benign ⚠ 해석 →
I1371V Conflicting classifications of pathogeni 0.139 benign 해석 →
I2020T Pathogenic 0.815 pathogenic ✓ 해석 →
N1437S Conflicting classifications of pathogeni 0.176 benign 해석 →
Q1657* Pathogenic — 미적재 해석 →
R1325Q Conflicting classifications of pathogeni 0.146 benign 해석 →
R1441C Pathogenic 0.158 benign ⚠ 해석 →
R1441G Pathogenic 0.438 ambiguous 해석 →
R1441H Pathogenic/Likely pathogenic 0.153 benign ⚠ 해석 →
R1441S Likely pathogenic 0.647 pathogenic ✓ 해석 →
R1628P Conflicting classifications of pathogeni 0.720 pathogenic 해석 →
Y1699C Pathogenic 0.327 benign ⚠ 해석 →
A1022V Uncertain significance 0.105 benign 해석 →
A1061T Uncertain significance 0.066 benign 해석 →
A1151T Uncertain significance 0.081 benign 해석 →
A1166G Uncertain significance 0.100 benign 해석 →
A1166V Uncertain significance 0.088 benign 해석 →
A1167S Uncertain significance 0.076 benign 해석 →
A1215E Uncertain significance 0.152 benign 해석 →
A1215S Uncertain significance 0.080 benign 해석 →
A1215T Uncertain significance 0.077 benign 해석 →
A1241T Uncertain significance 0.113 benign 해석 →
A127G Uncertain significance 0.094 benign 해석 →
A127V Uncertain significance 0.108 benign 해석 →
A1315S Uncertain significance 0.151 benign 해석 →
A1315T Uncertain significance 0.119 benign 해석 →
A1315V Uncertain significance 0.376 ambiguous 해석 →
A1329S Uncertain significance 0.141 benign 해석 →
A1367S Uncertain significance 0.080 benign 해석 →
A1396S Uncertain significance 0.135 benign 해석 →
A1413E Uncertain significance 0.978 pathogenic 해석 →
A1417V Uncertain significance 0.147 benign 해석 →
A1426V Uncertain significance 0.099 benign 해석 →
A1430V Uncertain significance 0.209 benign 해석 →
A1440V Uncertain significance 0.470 ambiguous 해석 →
A1442P Uncertain significance 0.987 pathogenic 해석 →
A1442S Uncertain significance 0.263 benign 해석 →
A1442T Uncertain significance 0.635 pathogenic 해석 →
A1464D Uncertain significance 0.114 benign 해석 →
A1464G Uncertain significance 0.118 benign 해석 →
A1464V Uncertain significance 0.096 benign 해석 →
A1481T Uncertain significance 0.069 benign 해석 →
A1481V Uncertain significance 0.078 benign 해석 →
A1490T Uncertain significance 0.236 benign 해석 →
A1496S Uncertain significance 0.078 benign 해석 →
A1498T Uncertain significance 0.077 benign 해석 →
A1572G Uncertain significance 0.559 ambiguous 해석 →
A1572S Uncertain significance 0.358 ambiguous 해석 →
A1572T Uncertain significance 0.547 ambiguous 해석 →
A1608T Uncertain significance 0.161 benign 해석 →
A1659G Uncertain significance 0.529 ambiguous 해석 →
A1659S Uncertain significance 0.358 ambiguous 해석 →
A1726P Uncertain significance 0.103 benign 해석 →
A1726S Uncertain significance 0.088 benign 해석 →
A172V Uncertain significance 0.091 benign 해석 →
A1746D Uncertain significance 0.950 pathogenic 해석 →
A1812T Uncertain significance 0.223 benign 해석 →
A1812V Uncertain significance 0.110 benign 해석 →
A183S Uncertain significance 0.151 benign 해석 →
A1856V Uncertain significance 0.408 ambiguous 해석 →
A1880T Uncertain significance 0.068 benign 해석 →
A1880V Uncertain significance 0.124 benign 해석 →
A1896P Uncertain significance 0.996 pathogenic 해석 →
A1897G Uncertain significance 0.115 benign 해석 →
A1904P Uncertain significance 0.996 pathogenic 해석 →
A1904V Uncertain significance 0.971 pathogenic 해석 →
A1937G Uncertain significance 0.167 benign 해석 →
A1937S Uncertain significance 0.351 ambiguous 해석 →
A1975T Uncertain significance 0.389 ambiguous 해석 →
A1975V Uncertain significance 0.491 ambiguous 해석 →
A1979P Uncertain significance 0.996 pathogenic 해석 →
A1988G Uncertain significance 0.258 benign 해석 →
A2010T Uncertain significance 0.124 benign 해석 →
A2010V Uncertain significance 0.202 benign 해석 →
A2016S Uncertain significance 0.204 benign 해석 →
A2016V Uncertain significance 0.752 pathogenic 해석 →
A2021S Uncertain significance 0.106 benign 해석 →
A2054P Uncertain significance 0.975 pathogenic 해석 →
A2102T Uncertain significance 0.071 benign 해석 →
A211V Conflicting classifications of pathogeni 0.100 benign 해석 →
A2135G Uncertain significance 0.197 benign 해석 →
A2165T Uncertain significance 0.074 benign 해석 →
A2195S Uncertain significance 0.078 benign 해석 →
A2195V Uncertain significance 0.096 benign 해석 →
A2203T Uncertain significance 0.092 benign 해석 →
A2203V Uncertain significance 0.148 benign 해석 →
A2285S Uncertain significance 0.095 benign 해석 →
A2285V Uncertain significance 0.103 benign 해석 →
A2286S Uncertain significance 0.083 benign 해석 →
A2286V Uncertain significance 0.083 benign 해석 →
A233V Uncertain significance 0.394 ambiguous 해석 →
A2348G Uncertain significance 0.107 benign 해석 →
A2348V Uncertain significance 0.097 benign 해석 →
A2362G Uncertain significance 0.170 benign 해석 →
A2424S Uncertain significance 0.154 benign 해석 →
A2424T Uncertain significance 0.158 benign 해석 →
A2461G Uncertain significance 0.177 benign 해석 →
A2461V Uncertain significance 0.122 benign 해석 →
A2518V Uncertain significance 0.183 benign 해석 →
A256G Uncertain significance 0.207 benign 해석 →
A259S Uncertain significance 0.082 benign 해석 →
A298V Uncertain significance 0.357 ambiguous 해석 →
A352S Uncertain significance 0.125 benign 해석 →
A352T Uncertain significance 0.142 benign 해석 →
A352V Uncertain significance 0.159 benign 해석 →
A356T Uncertain significance 0.531 ambiguous 해석 →
A369S Uncertain significance 0.173 benign 해석 →
A370S Uncertain significance 0.157 benign 해석 →
A370T Uncertain significance 0.396 ambiguous 해석 →
A417S Uncertain significance 0.267 benign 해석 →
A417V Uncertain significance 0.802 pathogenic 해석 →
A419V Benign/Likely benign 0.329 benign ✓ 해석 →
A421E Uncertain significance 0.943 pathogenic 해석 →
A421G Uncertain significance 0.332 benign 해석 →
A421T Uncertain significance 0.136 benign 해석 →
A421V Uncertain significance 0.284 benign 해석 →
A459G Uncertain significance 0.223 benign 해석 →
A481T Uncertain significance 0.083 benign 해석 →
A482G Uncertain significance 0.123 benign 해석 →
A504G Uncertain significance 0.098 benign 해석 →
A504T Uncertain significance 0.454 ambiguous 해석 →
A504V Uncertain significance 0.626 pathogenic 해석 →
A51D Uncertain significance 0.617 pathogenic 해석 →
A51G Uncertain significance 0.128 benign 해석 →
A548E Uncertain significance 0.169 benign 해석 →
A548V Uncertain significance 0.105 benign 해석 →
A549D Uncertain significance 0.681 pathogenic 해석 →
A549G Uncertain significance 0.169 benign 해석 →
A576S Uncertain significance 0.099 benign 해석 →
A576T Uncertain significance 0.094 benign 해석 →
A585S Uncertain significance 0.157 benign 해석 →
A628S Uncertain significance 0.141 benign 해석 →
A660V Likely benign 0.071 benign ✓ 해석 →
A700S Uncertain significance 0.110 benign 해석 →
A703T Uncertain significance 0.103 benign 해석 →
A703V Uncertain significance 0.139 benign 해석 →
A716T Uncertain significance 0.651 pathogenic 해석 →
A716V not provided 0.744 pathogenic 해석 →
A733G Uncertain significance 0.243 benign 해석 →
A733T Uncertain significance 0.272 benign 해석 →
A735D Uncertain significance 0.514 ambiguous 해석 →
A735T Uncertain significance 0.091 benign 해석 →
A738G Uncertain significance 0.090 benign 해석 →
A75P Uncertain significance 0.145 benign 해석 →
A774V Uncertain significance 0.693 pathogenic 해석 →
A795V Uncertain significance 0.638 pathogenic 해석 →
A799D Uncertain significance 0.521 ambiguous 해석 →
A799G Uncertain significance 0.183 benign 해석 →
A799T Uncertain significance 0.115 benign 해석 →
A799V Uncertain significance 0.232 benign 해석 →
A836T Uncertain significance 0.220 benign 해석 →
A840G Uncertain significance 0.257 benign 해석 →
A840V Uncertain significance 0.638 pathogenic 해석 →
A857G Uncertain significance 0.099 benign 해석 →
A857V Uncertain significance 0.086 benign 해석 →
A888S Uncertain significance 0.078 benign 해석 →
A920T Conflicting classifications of pathogeni 0.069 benign 해석 →
A999D Uncertain significance 0.199 benign 해석 →
A999S Uncertain significance 0.088 benign 해석 →
A999V Uncertain significance 0.112 benign 해석 →
C1005F Uncertain significance 0.088 benign 해석 →
C1005Y Uncertain significance 0.102 benign 해석 →
C1031R Uncertain significance 0.682 pathogenic 해석 →
C1059Y Uncertain significance 0.117 benign 해석 →
C1082G Uncertain significance 0.439 ambiguous 해석 →
C1082R Uncertain significance 0.796 pathogenic 해석 →
C1123F Uncertain significance 0.076 benign 해석 →
C1123S Uncertain significance 0.094 benign 해석 →
C1187Y Uncertain significance 0.087 benign 해석 →
C1266S Uncertain significance 0.148 benign 해석 →
C1313* Uncertain significance — 미적재 해석 →
C1313Y Uncertain significance 0.072 benign 해석 →
C1465S Uncertain significance 0.253 benign 해석 →
C1526R Uncertain significance 0.464 ambiguous 해석 →
C1604R Uncertain significance 0.980 pathogenic 해석 →
C1604Y Uncertain significance 0.938 pathogenic 해석 →
C1618R Uncertain significance 0.123 benign 해석 →
C1618Y Likely benign 0.054 benign ✓ 해석 →
C1685S Uncertain significance 0.240 benign 해석 →
C1770G Uncertain significance 0.074 benign 해석 →
C1770R Uncertain significance 0.463 ambiguous 해석 →
C1770S Uncertain significance 0.112 benign 해석 →
C1801F Uncertain significance 0.134 benign 해석 →
C181S Uncertain significance 0.597 pathogenic 해석 →
C1925R Uncertain significance 0.518 ambiguous 해석 →
C2025G Uncertain significance 0.566 pathogenic 해석 →
C2139R Uncertain significance 0.953 pathogenic 해석 →
C2139S not provided 0.473 ambiguous 해석 →
C2154F Uncertain significance 0.647 pathogenic 해석 →
C2154G Uncertain significance 0.262 benign 해석 →
C2154S Uncertain significance 0.425 ambiguous 해석 →
C2171Y Uncertain significance 0.153 benign 해석 →
C2201R Uncertain significance 0.886 pathogenic 해석 →
C2201S Uncertain significance 0.223 benign 해석 →
C2247R Uncertain significance 0.941 pathogenic 해석 →
C2250W Uncertain significance 0.303 benign 해석 →
C228S Uncertain significance 0.217 benign 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.