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

ACE: AM vs ClinVar 일치도

432 변이
✓ 둘 다 병원성
2
✓ 둘 다 양성
25
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
2
— AM 미적재
403
AM ↔ ClinVar 비교 가능 변이 29건 중 27건 일치 / 2건 불일치 — 일치도 93.1%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
E1046K Conflicting classifications of pathogeni 0.077 benign 해석 →
E78* Pathogenic/Likely pathogenic — 미적재 해석 →
G1099D Likely pathogenic 0.990 pathogenic ✓ 해석 →
L273F Conflicting classifications of pathogeni 0.336 benign 해석 →
M1I Likely pathogenic 0.588 pathogenic ✓ 해석 →
M1K Likely pathogenic 0.494 ambiguous 해석 →
M1T Pathogenic/Likely pathogenic 0.435 ambiguous 해석 →
P1228L Uncertain significance 0.559 ambiguous 해석 →
Q1088* Likely pathogenic — 미적재 해석 →
Q1137* Pathogenic — 미적재 해석 →
Q1144* Pathogenic — 미적재 해석 →
Q1184* Pathogenic — 미적재 해석 →
Q138* Pathogenic — 미적재 해석 →
Q376* Likely pathogenic — 미적재 해석 →
Q396* Pathogenic/Likely pathogenic — 미적재 해석 →
Q582* Pathogenic — 미적재 해석 →
Q63* Likely pathogenic — 미적재 해석 →
Q688* Likely pathogenic — 미적재 해석 →
R259H Conflicting classifications of pathogeni 0.798 pathogenic 해석 →
R265* Pathogenic — 미적재 해석 →
R496* Pathogenic/Likely pathogenic — 미적재 해석 →
R496Q Likely pathogenic 0.552 ambiguous 해석 →
R508* Pathogenic — 미적재 해석 →
R791* Pathogenic — 미적재 해석 →
S683R Conflicting classifications of pathogeni 0.552 ambiguous 해석 →
W1074* Pathogenic — 미적재 해석 →
W1091* Pathogenic — 미적재 해석 →
W290* Pathogenic — 미적재 해석 →
W69* Pathogenic — 미적재 해석 →
Y266* Pathogenic/Likely pathogenic — 미적재 해석 →
Y266* Likely pathogenic — 미적재 해석 →
A1017T Uncertain significance 0.942 pathogenic 해석 →
A101T Uncertain significance 0.266 benign 해석 →
A1194P Uncertain significance 0.404 ambiguous 해석 →
A1194T Uncertain significance 0.151 benign 해석 →
A1231T Uncertain significance 0.081 benign 해석 →
A1252V Uncertain significance 0.096 benign 해석 →
A154T Benign 0.084 benign ✓ 해석 →
A154V Uncertain significance 0.185 benign 해석 →
A183T Likely benign 0.075 benign ✓ 해석 →
A195T Uncertain significance 0.072 benign 해석 →
A214S Uncertain significance 0.232 benign 해석 →
A214T Uncertain significance 0.541 ambiguous 해석 →
A225S Uncertain significance 0.085 benign 해석 →
A261S Benign 0.088 benign ✓ 해석 →
A27V Uncertain significance 0.101 benign 해석 →
A319S Benign/Likely benign 0.123 benign ✓ 해석 →
A361T Uncertain significance 0.683 pathogenic 해석 →
A363V Uncertain significance 0.781 pathogenic 해석 →
A412T Uncertain significance 0.447 ambiguous 해석 →
A425V Uncertain significance 0.422 ambiguous 해석 →
A515S Uncertain significance 0.269 benign 해석 →
A543T Uncertain significance 0.127 benign 해석 →
A565T Uncertain significance 0.479 ambiguous 해석 →
A596F Uncertain significance 0.625 pathogenic 해석 →
A704G Uncertain significance 0.263 benign 해석 →
A70V Likely benign 0.144 benign ✓ 해석 →
A730E Uncertain significance 0.840 pathogenic 해석 →
A731V Uncertain significance 0.113 benign 해석 →
A731V Uncertain significance 0.113 benign 해석 →
A866S Uncertain significance 0.064 benign 해석 →
A885V Uncertain significance 0.933 pathogenic 해석 →
A959D Uncertain significance 0.981 pathogenic 해석 →
A959T Uncertain significance 0.776 pathogenic 해석 →
A961P Uncertain significance 0.967 pathogenic 해석 →
C359W Uncertain significance 0.990 pathogenic 해석 →
C557R Uncertain significance 0.986 pathogenic 해석 →
C763Y Uncertain significance 0.905 pathogenic 해석 →
C975Y Uncertain significance 0.991 pathogenic 해석 →
D1020G Uncertain significance 0.939 pathogenic 해석 →
D1045H Likely benign 0.063 benign ✓ 해석 →
D1045N Uncertain significance 0.064 benign 해석 →
D1048G Uncertain significance 0.256 benign 해석 →
D1058N Uncertain significance 0.193 benign 해석 →
D1070H Uncertain significance 0.993 pathogenic 해석 →
D1112G Uncertain significance 0.992 pathogenic 해석 →
D1249A Uncertain significance 0.148 benign 해석 →
D239Y Uncertain significance 0.212 benign 해석 →
D295H Uncertain significance 0.248 benign 해석 →
D302G Uncertain significance 0.064 benign 해석 →
D353N Conflicting classifications of pathogeni 0.151 benign 해석 →
D422N Uncertain significance 0.716 pathogenic 해석 →
D42N Uncertain significance 0.105 benign 해석 →
D441N Uncertain significance 0.092 benign 해석 →
D514N Uncertain significance 0.911 pathogenic 해석 →
D592G Benign/Likely benign 0.083 benign ✓ 해석 →
D592N Uncertain significance 0.092 benign 해석 →
D592V Uncertain significance 0.169 benign 해석 →
D641V Uncertain significance 0.152 benign 해석 →
D708Y Uncertain significance 0.227 benign 해석 →
D72Y Uncertain significance 0.340 ambiguous 해석 →
D746N Uncertain significance 0.085 benign 해석 →
D769G Uncertain significance 0.123 benign 해석 →
E1140K Uncertain significance 0.118 benign 해석 →
E190G Uncertain significance 0.616 pathogenic 해석 →
E205K Uncertain significance 0.066 benign 해석 →
E341K Uncertain significance 0.237 benign 해석 →
E341Q Uncertain significance 0.178 benign 해석 →
E349A Uncertain significance 0.300 benign 해석 →
E356K Uncertain significance 0.259 benign 해석 →
E510K Uncertain significance 0.404 ambiguous 해석 →
E638K Uncertain significance 0.086 benign 해석 →
E666K Uncertain significance 0.104 benign 해석 →
E669G Uncertain significance 0.339 benign 해석 →
E669K Likely benign 0.150 benign ✓ 해석 →
E681D Uncertain significance 0.101 benign 해석 →
E748G Uncertain significance 0.520 ambiguous 해석 →
E767K Conflicting classifications of pathogeni 0.674 pathogenic 해석 →
E78Q Uncertain significance 0.133 benign 해석 →
E85K Uncertain significance 0.136 benign 해석 →
E92V Uncertain significance 0.254 benign 해석 →
E947K Uncertain significance 0.304 benign 해석 →
E989G Uncertain significance 0.965 pathogenic 해석 →
F1136L Uncertain significance 0.996 pathogenic 해석 →
F1201L Uncertain significance 0.982 pathogenic 해석 →
F534L Uncertain significance 0.944 pathogenic 해석 →
F538L Uncertain significance 0.995 pathogenic 해석 →
F842S Uncertain significance 0.630 pathogenic 해석 →
F996S Uncertain significance 0.907 pathogenic 해석 →
G1013A Uncertain significance 0.351 ambiguous 해석 →
G1013S Uncertain significance 0.619 pathogenic 해석 →
G1150C Uncertain significance 0.776 pathogenic 해석 →
G1164R Uncertain significance 0.954 pathogenic 해석 →
G1241S Conflicting classifications of pathogeni 0.069 benign 해석 →
G1275S Uncertain significance 0.124 benign 해석 →
G128D Uncertain significance 0.772 pathogenic 해석 →
G1298C Uncertain significance 0.268 benign 해석 →
G197D Uncertain significance 0.955 pathogenic 해석 →
G267R Conflicting classifications of pathogeni 0.442 ambiguous 해석 →
G283R Uncertain significance 0.966 pathogenic 해석 →
G2E Uncertain significance 0.273 benign 해석 →
G2V Benign 0.368 ambiguous 해석 →
G354R Benign/Likely benign 0.208 benign ✓ 해석 →
G37R Uncertain significance 0.183 benign 해석 →
G415S Uncertain significance 0.419 ambiguous 해석 →
G438S Uncertain significance 0.127 benign 해석 →
G501R Uncertain significance 0.985 pathogenic 해석 →
G552D Uncertain significance 0.360 ambiguous 해석 →
G566R Uncertain significance 0.936 pathogenic 해석 →
G576A Uncertain significance 0.584 pathogenic 해석 →
G590S Likely benign 0.116 benign ✓ 해석 →
G618S Uncertain significance 0.083 benign 해석 →
G639S Uncertain significance 0.100 benign 해석 →
G639V Uncertain significance 0.173 benign 해석 →
G6S Uncertain significance 0.209 benign 해석 →
G865R Uncertain significance 0.608 pathogenic 해석 →
G932R Uncertain significance 0.766 pathogenic 해석 →
G98S Uncertain significance 0.354 ambiguous 해석 →
G9R Uncertain significance 0.188 benign 해석 →
H1015Q Likely benign 0.950 pathogenic ⚠ 해석 →
H1047R Uncertain significance 0.080 benign 해석 →
H1139D Uncertain significance 0.978 pathogenic 해석 →
H1153Y Uncertain significance 0.109 benign 해석 →
H1293Y Uncertain significance 0.093 benign 해석 →
H193R Uncertain significance 0.212 benign 해석 →
H512Y Uncertain significance 0.150 benign 해석 →
H555Y Uncertain significance 0.098 benign 해석 →
H71Q Likely benign 0.303 benign ✓ 해석 →
H71Q Uncertain significance 0.303 benign 해석 →
H71Y Likely benign 0.061 benign ✓ 해석 →
H861L Uncertain significance 0.274 benign 해석 →
H861Y Uncertain significance 0.076 benign 해석 →
H987Y Uncertain significance 0.681 pathogenic 해석 →
I1018T Conflicting classifications of pathogeni 0.481 ambiguous 해석 →
I120T Uncertain significance 0.311 benign 해석 →
I121V Uncertain significance 0.128 benign 해석 →
I395M Uncertain significance 0.580 pathogenic 해석 →
I420N Uncertain significance 0.954 pathogenic 해석 →
I420T Uncertain significance 0.355 ambiguous 해석 →
I451V Uncertain significance 0.107 benign 해석 →
I678V Uncertain significance 0.208 benign 해석 →
I75V Uncertain significance 0.170 benign 해석 →
I798V Likely benign 0.081 benign ✓ 해석 →
K1030N Uncertain significance 0.330 benign 해석 →
K136T Uncertain significance 0.151 benign 해석 →
K155N Uncertain significance 0.458 ambiguous 해석 →
K201T Uncertain significance 0.655 pathogenic 해석 →
K571N Uncertain significance 0.143 benign 해석 →
K571T Uncertain significance 0.089 benign 해석 →
K586E Uncertain significance 0.105 benign 해석 →
K601R Uncertain significance 0.070 benign 해석 →
K718R Uncertain significance 0.080 benign 해석 →
K722N Uncertain significance 0.370 ambiguous 해석 →
K922E Uncertain significance 0.075 benign 해석 →
L1024F Uncertain significance 0.729 pathogenic 해석 →
L1100F Uncertain significance 0.811 pathogenic 해석 →
L1208P Uncertain significance 0.994 pathogenic 해석 →
L1219P Conflicting classifications of pathogeni 0.170 benign 해석 →
L127R Uncertain significance 0.262 benign 해석 →
L13P Uncertain significance 0.058 benign 해석 →
L168P Uncertain significance 0.725 pathogenic 해석 →
L16P Uncertain significance 0.090 benign 해석 →
L200P Uncertain significance 0.913 pathogenic 해석 →
L22P Uncertain significance 0.070 benign 해석 →
L254P Uncertain significance 0.994 pathogenic 해석 →
L30F Uncertain significance 0.215 benign 해석 →
L333Q Uncertain significance 0.806 pathogenic 해석 →
L434V Uncertain significance 0.489 ambiguous 해석 →
L439V Uncertain significance 0.405 ambiguous 해석 →
L440Q Uncertain significance 0.406 ambiguous 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.