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

HERC2: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
2
✓ 둘 다 양성
18
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
480
AM ↔ ClinVar 비교 가능 변이 20건 중 20건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
D4267E Benign 0.075 benign ✓ 해석 →
E4484K Likely pathogenic 0.999 pathogenic ✓ 해석 →
G4110R Conflicting classifications of pathogeni 0.956 pathogenic 해석 →
L3237* Pathogenic — 미적재 해석 →
P594L Pathogenic 0.962 pathogenic ✓ 해석 →
Q3341* Pathogenic/Likely pathogenic — 미적재 해석 →
Q4330* Pathogenic — 미적재 해석 →
R1376* Pathogenic/Likely pathogenic — 미적재 해석 →
R198* Likely pathogenic — 미적재 해석 →
R213* Pathogenic — 미적재 해석 →
R3740* Likely pathogenic — 미적재 해석 →
R390* Pathogenic — 미적재 해석 →
R4427* Likely pathogenic — 미적재 해석 →
S3492P Conflicting classifications of pathogeni 0.102 benign 해석 →
T481M Conflicting classifications of pathogeni 0.085 benign 해석 →
A1049T Uncertain significance 0.150 benign 해석 →
A1213V Uncertain significance 0.501 ambiguous 해석 →
A1253S Uncertain significance 0.106 benign 해석 →
A1253T Uncertain significance 0.085 benign 해석 →
A1253V Uncertain significance 0.101 benign 해석 →
A1276T Uncertain significance 0.110 benign 해석 →
A12S Uncertain significance 0.076 benign 해석 →
A137D Uncertain significance 0.800 pathogenic 해석 →
A137V Uncertain significance 0.170 benign 해석 →
A1454T Uncertain significance 0.301 benign 해석 →
A1691T Uncertain significance 0.147 benign 해석 →
A1691V Uncertain significance 0.252 benign 해석 →
A1783T Uncertain significance 0.374 ambiguous 해석 →
A1799T Uncertain significance 0.098 benign 해석 →
A1799V Uncertain significance 0.155 benign 해석 →
A185V Uncertain significance 0.065 benign 해석 →
A1933T Uncertain significance 0.069 benign 해석 →
A199V Uncertain significance 0.848 pathogenic 해석 →
A200V Uncertain significance 0.885 pathogenic 해석 →
A2042T Uncertain significance 0.073 benign 해석 →
A2073V Uncertain significance 0.250 benign 해석 →
A2090S Uncertain significance 0.072 benign 해석 →
A2143V Uncertain significance 0.681 pathogenic 해석 →
A2284G Likely benign 0.196 benign ✓ 해석 →
A2306G Likely benign 0.067 benign ✓ 해석 →
A2308S Uncertain significance 0.074 benign 해석 →
A2331V Uncertain significance 0.101 benign 해석 →
A2439D Benign/Likely benign 0.196 benign ✓ 해석 →
A2458T Uncertain significance 0.094 benign 해석 →
A2458V Uncertain significance 0.095 benign 해석 →
A2582V Uncertain significance 0.199 benign 해석 →
A2671G Uncertain significance 0.369 ambiguous 해석 →
A274G Uncertain significance 0.056 benign 해석 →
A2948S Uncertain significance 0.074 benign 해석 →
A2998V Uncertain significance 0.164 benign 해석 →
A3059T Uncertain significance 0.586 pathogenic 해석 →
A3095S Uncertain significance 0.095 benign 해석 →
A309V Uncertain significance 0.164 benign 해석 →
A3112T Uncertain significance 0.908 pathogenic 해석 →
A321S Uncertain significance 0.069 benign 해석 →
A3266T Uncertain significance 0.967 pathogenic 해석 →
A3439T Uncertain significance 0.062 benign 해석 →
A3478T Conflicting classifications of pathogeni 0.075 benign 해석 →
A3543V Uncertain significance 0.109 benign 해석 →
A3571S Uncertain significance 0.088 benign 해석 →
A3571T Uncertain significance 0.081 benign 해석 →
A3571V Uncertain significance 0.121 benign 해석 →
A3805V Conflicting classifications of pathogeni 0.077 benign 해석 →
A3852P Uncertain significance 0.986 pathogenic 해석 →
A3886V Uncertain significance 0.613 pathogenic 해석 →
A3910P Uncertain significance 0.140 benign 해석 →
A393V Uncertain significance 0.558 ambiguous 해석 →
A4013T Uncertain significance 0.231 benign 해석 →
A404T Uncertain significance 0.359 ambiguous 해석 →
A4053S Uncertain significance 0.580 pathogenic 해석 →
A4066T Uncertain significance 0.535 ambiguous 해석 →
A4104T Uncertain significance 0.816 pathogenic 해석 →
A4139V Uncertain significance 0.095 benign 해석 →
A4253T Uncertain significance 0.108 benign 해석 →
A4253V Uncertain significance 0.312 benign 해석 →
A4315T Uncertain significance 0.738 pathogenic 해석 →
A4345V Uncertain significance 0.093 benign 해석 →
A4524T Uncertain significance 0.117 benign 해석 →
A4555V Uncertain significance 0.927 pathogenic 해석 →
A4570S Uncertain significance 0.114 benign 해석 →
A4570V Uncertain significance 0.299 benign 해석 →
A4628V Uncertain significance 0.117 benign 해석 →
A4698T Uncertain significance 0.098 benign 해석 →
A476T Uncertain significance 0.082 benign 해석 →
A4806G Uncertain significance 0.104 benign 해석 →
A4806T Uncertain significance 0.071 benign 해석 →
A483V Uncertain significance 0.101 benign 해석 →
A543T Uncertain significance 0.078 benign 해석 →
A568S Uncertain significance 0.075 benign 해석 →
A568V Uncertain significance 0.097 benign 해석 →
A609V Uncertain significance 0.694 pathogenic 해석 →
A723V Uncertain significance 0.090 benign 해석 →
A817T Conflicting classifications of pathogeni 0.066 benign 해석 →
A817V Uncertain significance 0.079 benign 해석 →
A842S Uncertain significance 0.154 benign 해석 →
A876V Uncertain significance 0.093 benign 해석 →
A901V Uncertain significance 0.644 pathogenic 해석 →
A915P Uncertain significance 0.113 benign 해석 →
A915S Uncertain significance 0.077 benign 해석 →
A915T Uncertain significance 0.072 benign 해석 →
A950T Uncertain significance 0.080 benign 해석 →
A976T Uncertain significance 0.080 benign 해석 →
A976V Uncertain significance 0.088 benign 해석 →
C1005R Uncertain significance 0.324 benign 해석 →
C1097R Uncertain significance 0.863 pathogenic 해석 →
C1201Y Uncertain significance 0.102 benign 해석 →
C1364Y Uncertain significance 0.218 benign 해석 →
C1825Y Uncertain significance 0.090 benign 해석 →
C2040S Uncertain significance 0.342 ambiguous 해석 →
C3158G Uncertain significance 0.963 pathogenic 해석 →
C3208Y Uncertain significance 0.481 ambiguous 해석 →
C3646S Uncertain significance 0.986 pathogenic 해석 →
C407R Uncertain significance 0.502 ambiguous 해석 →
D1269E Uncertain significance 0.165 benign 해석 →
D1304G Uncertain significance 0.783 pathogenic 해석 →
D1397E Uncertain significance 0.302 benign 해석 →
D1604A Uncertain significance 0.289 benign 해석 →
D1673H Uncertain significance 0.378 ambiguous 해석 →
D1718H Uncertain significance 0.236 benign 해석 →
D1803N Conflicting classifications of pathogeni 0.062 benign 해석 →
D1883N Uncertain significance 0.431 ambiguous 해석 →
D1925G Uncertain significance 1.000 pathogenic 해석 →
D1947E Uncertain significance 0.268 benign 해석 →
D2194N Uncertain significance 0.074 benign 해석 →
D219H Uncertain significance 0.911 pathogenic 해석 →
D2314E Uncertain significance 0.114 benign 해석 →
D2399Y Conflicting classifications of pathogeni 0.237 benign 해석 →
D242E Uncertain significance 0.182 benign 해석 →
D2561N Uncertain significance 0.943 pathogenic 해석 →
D2678Y Uncertain significance 0.988 pathogenic 해석 →
D2682Y Uncertain significance 0.979 pathogenic 해석 →
D2727H Uncertain significance 0.301 benign 해석 →
D2780N Uncertain significance 0.157 benign 해석 →
D2838N Uncertain significance 0.332 benign 해석 →
D2872H Uncertain significance 0.725 pathogenic 해석 →
D2880A Uncertain significance 0.307 benign 해석 →
D2929N Uncertain significance 0.587 pathogenic 해석 →
D318G Uncertain significance 0.125 benign 해석 →
D318Y Benign 0.220 benign ✓ 해석 →
D3359Y Uncertain significance 0.175 benign 해석 →
D3388N Uncertain significance 0.201 benign 해석 →
D3438N Uncertain significance 0.093 benign 해석 →
D3456V Uncertain significance 0.141 benign 해석 →
D3477G Uncertain significance 0.146 benign 해석 →
D3544N Uncertain significance 0.213 benign 해석 →
D3551Y Uncertain significance 0.973 pathogenic 해석 →
D359G Uncertain significance 0.085 benign 해석 →
D3623N Uncertain significance 0.373 ambiguous 해석 →
D4127G Uncertain significance 0.661 pathogenic 해석 →
D4173N Uncertain significance 0.999 pathogenic 해석 →
D4571Y Uncertain significance 0.995 pathogenic 해석 →
D4808A Uncertain significance 0.123 benign 해석 →
D4808N Uncertain significance 0.108 benign 해석 →
D4809N Uncertain significance 0.104 benign 해석 →
D4812E Uncertain significance 0.078 benign 해석 →
D4815E Likely benign 0.081 benign ✓ 해석 →
D4820V Uncertain significance 0.433 ambiguous 해석 →
D4825N Uncertain significance 0.235 benign 해석 →
D531N Uncertain significance 0.160 benign 해석 →
D63G Uncertain significance 0.096 benign 해석 →
D64G Conflicting classifications of pathogeni 0.095 benign 해석 →
D656E Uncertain significance 0.366 ambiguous 해석 →
D675G Uncertain significance 0.164 benign 해석 →
D78G Uncertain significance 0.186 benign 해석 →
D989H Uncertain significance 0.452 ambiguous 해석 →
E1046K Uncertain significance 0.182 benign 해석 →
E1069K Uncertain significance 0.082 benign 해석 →
E1448K Uncertain significance 0.274 benign 해석 →
E148D Uncertain significance 0.371 ambiguous 해석 →
E148Q Uncertain significance 0.165 benign 해석 →
E1575K Uncertain significance 0.075 benign 해석 →
E1666D Uncertain significance 0.512 ambiguous 해석 →
E1670K Uncertain significance 0.502 ambiguous 해석 →
E1830K Uncertain significance 0.131 benign 해석 →
E1850D Uncertain significance 0.092 benign 해석 →
E2019D Uncertain significance 0.387 ambiguous 해석 →
E2088K Uncertain significance 0.126 benign 해석 →
E216* Uncertain significance — 미적재 해석 →
E2184A Uncertain significance 0.083 benign 해석 →
E2184K Uncertain significance 0.078 benign 해석 →
E2196K Uncertain significance 0.081 benign 해석 →
E2227D Uncertain significance 0.095 benign 해석 →
E2350Q Uncertain significance 0.142 benign 해석 →
E2526A Uncertain significance 0.146 benign 해석 →
E2526K Uncertain significance 0.139 benign 해석 →
E2530G Uncertain significance 0.126 benign 해석 →
E2733V Uncertain significance 0.429 ambiguous 해석 →
E2806K Uncertain significance 0.197 benign 해석 →
E3073G Uncertain significance 0.963 pathogenic 해석 →
E3211D Uncertain significance 0.955 pathogenic 해석 →
E3336K Uncertain significance 0.904 pathogenic 해석 →
E3449V Uncertain significance 0.127 benign 해석 →
E357K Uncertain significance 0.078 benign 해석 →
E3679K Uncertain significance 0.958 pathogenic 해석 →
E384K Uncertain significance 0.186 benign 해석 →
E3900K Uncertain significance 0.770 pathogenic 해석 →
E3913K Uncertain significance 0.293 benign 해석 →
E3994A Uncertain significance 0.997 pathogenic 해석 →
E4358K Uncertain significance 0.889 pathogenic 해석 →
E4491D Uncertain significance 0.231 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.