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

AKAP9: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
22
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
1
— AM 미적재
475
AM ↔ ClinVar 비교 가능 변이 25건 중 22건 일치 / 3건 불일치 — 일치도 88%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
D765E Likely pathogenic 0.154 benign ⚠ 해석 →
E497* Likely pathogenic — 미적재 해석 →
Q191* Likely pathogenic — 미적재 해석 →
S1570L Conflicting classifications of pathogeni 0.061 benign 해석 →
S1781T Likely pathogenic 0.078 benign ⚠ 해석 →
W3622* Conflicting classifications of pathogeni — 미적재 해석 →
A1086T Conflicting classifications of pathogeni 0.069 benign 해석 →
A1142T Uncertain significance 0.169 benign 해석 →
A1142V Uncertain significance 0.228 benign 해석 →
A1194G Uncertain significance 0.278 benign 해석 →
A1194P Uncertain significance 0.911 pathogenic 해석 →
A1194T Conflicting classifications of pathogeni 0.151 benign 해석 →
A12T Uncertain significance 0.690 pathogenic 해석 →
A1454T Uncertain significance 0.125 benign 해석 →
A1456D Uncertain significance 0.973 pathogenic 해석 →
A1472T Conflicting classifications of pathogeni 0.059 benign 해석 →
A1576T Uncertain significance 0.081 benign 해석 →
A15V Uncertain significance 0.879 pathogenic 해석 →
A1611V Uncertain significance 0.511 ambiguous 해석 →
A1638S Uncertain significance 0.112 benign 해석 →
A1638T Uncertain significance 0.151 benign 해석 →
A1638V Uncertain significance 0.234 benign 해석 →
A1662V Conflicting classifications of pathogeni 0.237 benign 해석 →
A1669V Conflicting classifications of pathogeni 0.272 benign 해석 →
A1723V Uncertain significance 0.135 benign 해석 →
A1727V Uncertain significance 0.380 ambiguous 해석 →
A1743T Uncertain significance 0.141 benign 해석 →
A1743V Conflicting classifications of pathogeni 0.163 benign 해석 →
A1775T Uncertain significance 0.073 benign 해석 →
A1777G Likely benign 0.087 benign ✓ 해석 →
A1777T Uncertain significance 0.067 benign 해석 →
A1831D Uncertain significance 0.195 benign 해석 →
A1852G Uncertain significance 0.210 benign 해석 →
A1852T Uncertain significance 0.138 benign 해석 →
A1871G Uncertain significance 0.556 ambiguous 해석 →
A1871V Uncertain significance 0.420 ambiguous 해석 →
A1889T Uncertain significance 0.081 benign 해석 →
A1909T Benign/Likely benign 0.134 benign ✓ 해석 →
A1928V Uncertain significance 0.196 benign 해석 →
A1964V Uncertain significance 0.133 benign 해석 →
A1982P Uncertain significance 0.987 pathogenic 해석 →
A199T Uncertain significance 0.699 pathogenic 해석 →
A2012G Uncertain significance 0.576 pathogenic 해석 →
A2025S Uncertain significance 0.120 benign 해석 →
A2057V Uncertain significance 0.381 ambiguous 해석 →
A2115E Uncertain significance 0.227 benign 해석 →
A2115S Uncertain significance 0.085 benign 해석 →
A2115T Conflicting classifications of pathogeni 0.057 benign 해석 →
A2159V Uncertain significance 0.226 benign 해석 →
A2178V Likely benign 0.088 benign ✓ 해석 →
A2193D Uncertain significance 0.674 pathogenic 해석 →
A2270T Conflicting classifications of pathogeni 0.068 benign 해석 →
A2284P Uncertain significance 0.340 benign 해석 →
A2284V Uncertain significance 0.127 benign 해석 →
A2364T Uncertain significance 0.079 benign 해석 →
A2374P Uncertain significance 0.106 benign 해석 →
A2397G Conflicting classifications of pathogeni 0.119 benign 해석 →
A2405T Conflicting classifications of pathogeni 0.059 benign 해석 →
A247G Uncertain significance 0.478 ambiguous 해석 →
A2510S Uncertain significance 0.098 benign 해석 →
A2552S Uncertain significance 0.224 benign 해석 →
A2552T Uncertain significance 0.254 benign 해석 →
A2553P Uncertain significance 0.886 pathogenic 해석 →
A2568T Conflicting classifications of pathogeni 0.081 benign 해석 →
A25T Uncertain significance 0.733 pathogenic 해석 →
A261E Uncertain significance 0.524 ambiguous 해석 →
A261T Uncertain significance 0.144 benign 해석 →
A2700T Uncertain significance 0.084 benign 해석 →
A2706G Uncertain significance 0.115 benign 해석 →
A2706T Conflicting classifications of pathogeni 0.075 benign 해석 →
A2712T Conflicting classifications of pathogeni 0.082 benign 해석 →
A2741S Likely benign 0.095 benign ✓ 해석 →
A2741T Conflicting classifications of pathogeni 0.064 benign 해석 →
A2741V Uncertain significance 0.084 benign 해석 →
A2779S Uncertain significance 0.084 benign 해석 →
A2779V Uncertain significance 0.105 benign 해석 →
A2802S Uncertain significance 0.094 benign 해석 →
A2802V Uncertain significance 0.102 benign 해석 →
A2836T Uncertain significance 0.384 ambiguous 해석 →
A2837G Uncertain significance 0.521 ambiguous 해석 →
A2949V Uncertain significance 0.336 benign 해석 →
A2986V Conflicting classifications of pathogeni 0.133 benign 해석 →
A3007G Uncertain significance 0.097 benign 해석 →
A3007S Uncertain significance 0.087 benign 해석 →
A3043T Likely benign 0.138 benign ✓ 해석 →
A3077T Conflicting classifications of pathogeni 0.079 benign 해석 →
A3191P Uncertain significance 0.916 pathogenic 해석 →
A3286V Uncertain significance 0.126 benign 해석 →
A3324S Uncertain significance 0.088 benign 해석 →
A3324T Conflicting classifications of pathogeni 0.087 benign 해석 →
A3496P Likely benign 0.056 benign ✓ 해석 →
A3496S Uncertain significance 0.078 benign 해석 →
A3496T Conflicting classifications of pathogeni 0.074 benign 해석 →
A3523V Uncertain significance 0.147 benign 해석 →
A355D Uncertain significance 0.331 benign 해석 →
A3642V Uncertain significance 0.093 benign 해석 →
A3649D Uncertain significance 0.210 benign 해석 →
A3669P Uncertain significance 0.992 pathogenic 해석 →
A3671V Uncertain significance 0.220 benign 해석 →
A3738T Uncertain significance 0.105 benign 해석 →
A3738V Conflicting classifications of pathogeni 0.220 benign 해석 →
A3741V Uncertain significance 0.428 ambiguous 해석 →
A3807T Uncertain significance 0.069 benign 해석 →
A3855V Uncertain significance 0.090 benign 해석 →
A3903T Conflicting classifications of pathogeni 0.071 benign 해석 →
A458P Benign/Likely benign 0.457 ambiguous 해석 →
A525V Uncertain significance 0.084 benign 해석 →
A552D Uncertain significance 0.267 benign 해석 →
A552V Uncertain significance 0.113 benign 해석 →
A561V Conflicting classifications of pathogeni 0.155 benign 해석 →
A573G Uncertain significance 0.185 benign 해석 →
A578T Uncertain significance 0.215 benign 해석 →
A591G Uncertain significance 0.492 ambiguous 해석 →
A609D Uncertain significance 0.861 pathogenic 해석 →
A620D Conflicting classifications of pathogeni 0.817 pathogenic 해석 →
A771E Uncertain significance 0.133 benign 해석 →
A771T Conflicting classifications of pathogeni 0.065 benign 해석 →
A771V Uncertain significance 0.075 benign 해석 →
A775V Conflicting classifications of pathogeni 0.106 benign 해석 →
A869S Uncertain significance 0.095 benign 해석 →
A895E Uncertain significance 0.150 benign 해석 →
A895S Uncertain significance 0.094 benign 해석 →
A895T Uncertain significance 0.082 benign 해석 →
A925T Uncertain significance 0.072 benign 해석 →
C1144R Likely benign 0.145 benign ✓ 해석 →
C1207R Uncertain significance 0.125 benign 해석 →
C1220F Uncertain significance 0.104 benign 해석 →
C1220S Uncertain significance 0.154 benign 해석 →
C1220Y Uncertain significance 0.077 benign 해석 →
C1367S Conflicting classifications of pathogeni 0.081 benign 해석 →
C1405S Uncertain significance 0.087 benign 해석 →
C1544S Conflicting classifications of pathogeni 0.085 benign 해석 →
C1895Y Uncertain significance 0.130 benign 해석 →
C2010Y Conflicting classifications of pathogeni 0.263 benign 해석 →
C2333Y Uncertain significance 0.080 benign 해석 →
C2571Y Uncertain significance 0.083 benign 해석 →
C2765Y Uncertain significance 0.072 benign 해석 →
C2812G Uncertain significance 0.074 benign 해석 →
C2868S Uncertain significance 0.373 ambiguous 해석 →
C2877W Uncertain significance 0.204 benign 해석 →
C2901S Uncertain significance 0.120 benign 해석 →
C3508Y Conflicting classifications of pathogeni 0.059 benign 해석 →
C3581G Conflicting classifications of pathogeni 0.064 benign 해석 →
C3732S Uncertain significance 0.663 pathogenic 해석 →
C3732Y Uncertain significance 0.852 pathogenic 해석 →
C62S Uncertain significance 0.069 benign 해석 →
C62W Uncertain significance 0.137 benign 해석 →
C62Y Uncertain significance 0.074 benign 해석 →
C836R Uncertain significance 0.266 benign 해석 →
C870F Uncertain significance 0.262 benign 해석 →
C870Y Conflicting classifications of pathogeni 0.436 ambiguous 해석 →
C994Y Uncertain significance 0.449 ambiguous 해석 →
D1013V Uncertain significance 0.146 benign 해석 →
D1052G Uncertain significance 0.077 benign 해석 →
D112E Uncertain significance 0.136 benign 해석 →
D113N Uncertain significance 0.162 benign 해석 →
D1140N Uncertain significance 0.094 benign 해석 →
D1226G Uncertain significance 0.070 benign 해석 →
D1226N Uncertain significance 0.075 benign 해석 →
D1239H Uncertain significance 0.118 benign 해석 →
D1239Y Uncertain significance 0.078 benign 해석 →
D1251E Uncertain significance 0.201 benign 해석 →
D1286E Uncertain significance 0.121 benign 해석 →
D1286G Uncertain significance 0.083 benign 해석 →
D1316V Uncertain significance 0.103 benign 해석 →
D1387E Uncertain significance 0.139 benign 해석 →
D1387N Uncertain significance 0.086 benign 해석 →
D1395A Uncertain significance 0.085 benign 해석 →
D1411V Uncertain significance 0.112 benign 해석 →
D142V Likely benign 0.127 benign ✓ 해석 →
D1496E Uncertain significance 0.115 benign 해석 →
D1496Y Uncertain significance 0.094 benign 해석 →
D1507H Benign/Likely benign 0.147 benign ✓ 해석 →
D152E Conflicting classifications of pathogeni 0.127 benign 해석 →
D1537V Uncertain significance 0.095 benign 해석 →
D1543V Uncertain significance 0.123 benign 해석 →
D1556E Uncertain significance 0.181 benign 해석 →
D1556G Uncertain significance 0.135 benign 해석 →
D1567G Uncertain significance 0.090 benign 해석 →
D1575G Uncertain significance 0.135 benign 해석 →
D1575V Uncertain significance 0.154 benign 해석 →
D1589N Conflicting classifications of pathogeni 0.579 pathogenic 해석 →
D1622N Likely benign 0.198 benign ✓ 해석 →
D1706G Conflicting classifications of pathogeni 0.081 benign 해석 →
D1711F Uncertain significance 0.257 benign 해석 →
D1711G Uncertain significance 0.092 benign 해석 →
D1711H Likely benign 0.134 benign ✓ 해석 →
D1758H Uncertain significance 0.483 ambiguous 해석 →
D1802N Likely benign 0.079 benign ✓ 해석 →
D1836E Likely benign 0.325 benign ✓ 해석 →
D1943Y Uncertain significance 0.155 benign 해석 →
D1946N Uncertain significance 0.106 benign 해석 →
D2017N Uncertain significance 0.123 benign 해석 →
D2029E Uncertain significance 0.517 ambiguous 해석 →
D204N Likely benign 0.672 pathogenic ⚠ 해석 →
D2050H Uncertain significance 0.915 pathogenic 해석 →
D2050N Uncertain significance 0.696 pathogenic 해석 →
D2050Y Uncertain significance 0.694 pathogenic 해석 →
D2070V Uncertain significance 0.839 pathogenic 해석 →
D2081H Uncertain significance 0.928 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.