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

RUNX2: AM vs ClinVar 일치도

272 변이
✓ 둘 다 병원성
39
✓ 둘 다 양성
2
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
2
— AM 미적재
227
AM ↔ ClinVar 비교 가능 변이 45건 중 41건 일치 / 4건 불일치 — 일치도 91.1%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*522S Pathogenic — 미적재 해석 →
A180E Pathogenic 1.000 pathogenic ✓ 해석 →
A362V Pathogenic 0.096 benign ⚠ 해석 →
D222G Likely pathogenic 1.000 pathogenic ✓ 해석 →
D222H Likely pathogenic 1.000 pathogenic ✓ 해석 →
F187S Pathogenic 1.000 pathogenic ✓ 해석 →
F197S Pathogenic 1.000 pathogenic ✓ 해석 →
G146* Pathogenic — 미적재 해석 →
G146R Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
G159D Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G223E Pathogenic 1.000 pathogenic ✓ 해석 →
G363V Likely pathogenic 0.116 benign ⚠ 해석 →
G462* Pathogenic — 미적재 해석 →
H129R Likely pathogenic 1.000 pathogenic ✓ 해석 →
I217S Likely pathogenic 1.000 pathogenic ✓ 해석 →
K134T Likely pathogenic 1.000 pathogenic ✓ 해석 →
K218E Pathogenic 1.000 pathogenic ✓ 해석 →
K218Q Likely pathogenic 1.000 pathogenic ✓ 해석 →
L122P Pathogenic 1.000 pathogenic ✓ 해석 →
L136P Pathogenic 1.000 pathogenic ✓ 해석 →
L199F Likely pathogenic 0.998 pathogenic ✓ 해석 →
L93* Pathogenic — 미적재 해석 →
M175R Likely pathogenic 1.000 pathogenic ✓ 해석 →
M1I Pathogenic 0.945 pathogenic ✓ 해석 →
N120K Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
N160K Likely pathogenic 1.000 pathogenic ✓ 해석 →
P127L Pathogenic 1.000 pathogenic ✓ 해석 →
P127S Likely pathogenic 1.000 pathogenic ✓ 해석 →
Q209* Pathogenic — 미적재 해석 →
Q264* Pathogenic — 미적재 해석 →
Q280* Pathogenic — 미적재 해석 →
Q284* Pathogenic — 미적재 해석 →
Q290* Pathogenic — 미적재 해석 →
Q301* Pathogenic — 미적재 해석 →
Q309* Pathogenic — 미적재 해석 →
Q361* Pathogenic — 미적재 해석 →
Q50* Pathogenic — 미적재 해석 →
Q55* Pathogenic — 미적재 해석 →
Q62* Pathogenic — 미적재 해석 →
Q63* Pathogenic — 미적재 해석 →
Q64* Pathogenic — 미적재 해석 →
Q66* Pathogenic — 미적재 해석 →
Q67* Pathogenic — 미적재 해석 →
Q68* Pathogenic — 미적재 해석 →
Q69* Pathogenic — 미적재 해석 →
Q71* Likely pathogenic — 미적재 해석 →
R131G Likely pathogenic 1.000 pathogenic ✓ 해석 →
R131H Pathogenic 1.000 pathogenic ✓ 해석 →
R169P Pathogenic 1.000 pathogenic ✓ 해석 →
R169Q Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
R169W Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
R186G Pathogenic 1.000 pathogenic ✓ 해석 →
R190L Pathogenic 1.000 pathogenic ✓ 해석 →
R190Q Pathogenic 0.999 pathogenic ✓ 해석 →
R190W Pathogenic 1.000 pathogenic ✓ 해석 →
R193* Pathogenic — 미적재 해석 →
R193Q Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
R225Q Pathogenic 0.999 pathogenic ✓ 해석 →
R225W Pathogenic 1.000 pathogenic ✓ 해석 →
R391* Pathogenic — 미적재 해석 →
S118R Likely pathogenic 1.000 pathogenic ✓ 해석 →
S124* Pathogenic — 미적재 해석 →
S191G Likely pathogenic 0.995 pathogenic ✓ 해석 →
S191N Likely pathogenic 1.000 pathogenic ✓ 해석 →
S365* Likely pathogenic — 미적재 해석 →
T200A Pathogenic 0.990 pathogenic ✓ 해석 →
T220I Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
V156D Likely pathogenic 1.000 pathogenic ✓ 해석 →
W130* Pathogenic — 미적재 해석 →
W130R Pathogenic 1.000 pathogenic ✓ 해석 →
W130R Pathogenic 1.000 pathogenic ✓ 해석 →
W297* Pathogenic — 미적재 해석 →
Y303* Pathogenic — 미적재 해석 →
Y394* Pathogenic — 미적재 해석 →
Y400* Pathogenic — 미적재 해석 →
Y421* Pathogenic — 미적재 해석 →
A171G Uncertain significance 0.725 pathogenic 해석 →
A211P Uncertain significance 1.000 pathogenic 해석 →
A216E Uncertain significance 1.000 pathogenic 해석 →
A273P Uncertain significance 0.119 benign 해석 →
A291S Uncertain significance 0.069 benign 해석 →
A331G Uncertain significance 0.311 benign 해석 →
A331T Uncertain significance 0.172 benign 해석 →
A396V Uncertain significance 0.260 benign 해석 →
A414T Uncertain significance 0.070 benign 해석 →
A414V Uncertain significance 0.179 benign 해석 →
A48E Uncertain significance 0.475 ambiguous 해석 →
A73E Uncertain significance 0.185 benign 해석 →
A74E Uncertain significance 0.284 benign 해석 →
A77S Uncertain significance 0.150 benign 해석 →
A78E Uncertain significance 0.364 ambiguous 해석 →
A79V Uncertain significance 0.285 benign 해석 →
A80S Uncertain significance 0.154 benign 해석 →
A83S Uncertain significance 0.153 benign 해석 →
A85V Benign/Likely benign 0.274 benign ✓ 해석 →
C123Y Uncertain significance 1.000 pathogenic 해석 →
D161N Uncertain significance 0.999 pathogenic 해석 →
D20A Uncertain significance 0.862 pathogenic 해석 →
D20Y Uncertain significance 0.861 pathogenic 해석 →
D222N Uncertain significance 1.000 pathogenic 해석 →
D222V Uncertain significance 1.000 pathogenic 해석 →
D287G Uncertain significance 0.560 ambiguous 해석 →
D300H Uncertain significance 0.892 pathogenic 해석 →
D334N Uncertain significance 0.745 pathogenic 해석 →
D463Y Uncertain significance 0.717 pathogenic 해석 →
D495N Uncertain significance 0.455 ambiguous 해석 →
E147K Uncertain significance 0.958 pathogenic 해석 →
E72D Uncertain significance 0.179 benign 해석 →
F376L Uncertain significance 0.945 pathogenic 해석 →
F387L Uncertain significance 0.946 pathogenic 해석 →
F398L Uncertain significance 0.963 pathogenic 해석 →
G151E Uncertain significance 0.998 pathogenic 해석 →
G189R Uncertain significance 1.000 pathogenic 해석 →
G250R Uncertain significance 0.745 pathogenic 해석 →
G326V Uncertain significance 0.368 ambiguous 해석 →
G37C Uncertain significance 0.454 ambiguous 해석 →
G37R Uncertain significance 0.908 pathogenic 해석 →
G428S Uncertain significance 0.081 benign 해석 →
G448C Uncertain significance 0.699 pathogenic 해석 →
G448S Uncertain significance 0.122 benign 해석 →
G461R Likely benign 0.815 pathogenic ⚠ 해석 →
G479V Uncertain significance 0.327 benign 해석 →
G493A Uncertain significance 0.094 benign 해석 →
G493D Uncertain significance 0.641 pathogenic 해석 →
G511S Benign/Likely benign 0.226 benign ✓ 해석 →
H214Q Uncertain significance 0.760 pathogenic 해석 →
H97Q Uncertain significance 0.212 benign 해석 →
I201T Uncertain significance 1.000 pathogenic 해석 →
K134E Uncertain significance 1.000 pathogenic 해석 →
K176I Uncertain significance 1.000 pathogenic 해석 →
K176Q Uncertain significance 0.992 pathogenic 해석 →
K195M Uncertain significance 1.000 pathogenic 해석 →
K218T Uncertain significance 0.999 pathogenic 해석 →
L126Q Uncertain significance 1.000 pathogenic 해석 →
L145F Uncertain significance 0.992 pathogenic 해석 →
L168F Uncertain significance 0.999 pathogenic 해석 →
L34V Uncertain significance 0.142 benign 해석 →
L367P Uncertain significance 0.245 benign 해석 →
L367V Uncertain significance 0.122 benign 해석 →
M102L Uncertain significance 0.606 pathogenic 해석 →
M102V Uncertain significance 0.246 benign 해석 →
M175T Uncertain significance 0.997 pathogenic 해석 →
M175V Conflicting classifications of pathogeni 0.879 pathogenic 해석 →
M408V Uncertain significance 0.110 benign 해석 →
M412T Uncertain significance 0.251 benign 해석 →
N170T Uncertain significance 0.997 pathogenic 해석 →
N177H Uncertain significance 0.802 pathogenic 해석 →
N177K Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
N389S Conflicting classifications of pathogeni 0.061 benign 해석 →
N99I Uncertain significance 0.692 pathogenic 해석 →
P119R Uncertain significance 0.996 pathogenic 해석 →
P119T Uncertain significance 0.996 pathogenic 해석 →
P127R Uncertain significance 1.000 pathogenic 해석 →
P12S Uncertain significance 0.130 benign 해석 →
P12T Uncertain significance 0.178 benign 해석 →
P208S Uncertain significance 0.712 pathogenic 해석 →
P21L Uncertain significance 0.593 pathogenic 해석 →
P21T Uncertain significance 0.204 benign 해석 →
P227R Uncertain significance 0.998 pathogenic 해석 →
P255S Uncertain significance 0.067 benign 해석 →
P263H Uncertain significance 0.124 benign 해석 →
P263L Uncertain significance 0.078 benign 해석 →
P276R Uncertain significance 0.413 ambiguous 해석 →
P288L Uncertain significance 0.136 benign 해석 →
P295L Uncertain significance 0.349 ambiguous 해석 →
P296L Conflicting classifications of pathogeni 0.323 benign 해석 →
P296S Uncertain significance 0.123 benign 해석 →
P29S Likely benign 0.655 pathogenic ⚠ 해석 →
P29T Uncertain significance 0.711 pathogenic 해석 →
P304S Uncertain significance 0.152 benign 해석 →
P30A Uncertain significance 0.487 ambiguous 해석 →
P30H Uncertain significance 0.912 pathogenic 해석 →
P30R Uncertain significance 0.915 pathogenic 해석 →
P313Q Uncertain significance 0.464 ambiguous 해석 →
P313R Uncertain significance 0.805 pathogenic 해석 →
P320L Uncertain significance 0.728 pathogenic 해석 →
P336L Uncertain significance 0.872 pathogenic 해석 →
P373S Uncertain significance 0.131 benign 해석 →
P377T Uncertain significance 0.063 benign 해석 →
P402L Uncertain significance 0.387 ambiguous 해석 →
P402S Uncertain significance 0.113 benign 해석 →
P424Q Uncertain significance 0.757 pathogenic 해석 →
P436L Uncertain significance 0.227 benign 해석 →
P457S Uncertain significance 0.060 benign 해석 →
P460A Uncertain significance 0.059 benign 해석 →
P460L Uncertain significance 0.177 benign 해석 →
P466S Uncertain significance 0.219 benign 해석 →
P471L Uncertain significance 0.281 benign 해석 →
P485S Uncertain significance 0.109 benign 해석 →
P485T Uncertain significance 0.130 benign 해석 →
Q14K Uncertain significance 0.443 ambiguous 해석 →
Q15K Uncertain significance 0.396 ambiguous 해석 →
Q280E Uncertain significance 0.180 benign 해석 →
Q301R Uncertain significance 0.491 ambiguous 해석 →
Q35L Uncertain significance 0.198 benign 해석 →
Q375K Uncertain significance 0.374 ambiguous 해석 →
Q51K Conflicting classifications of pathogeni 0.271 benign 해석 →
Q55K Uncertain significance 0.250 benign 해석 →
Q59R Conflicting classifications of pathogeni 0.306 benign 해석 →
Q64L Uncertain significance 0.205 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.