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

F2: AM vs ClinVar 일치도

146 변이
✓ 둘 다 병원성
15
✓ 둘 다 양성
4
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
0
— AM 미적재
125
AM ↔ ClinVar 비교 가능 변이 21건 중 19건 일치 / 2건 불일치 — 일치도 90.5%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
D595E Pathogenic 0.867 pathogenic ✓ 해석 →
E200K Conflicting classifications of pathogeni 0.061 benign 해석 →
E319* Pathogenic — 미적재 해석 →
E343K Pathogenic 0.856 pathogenic ✓ 해석 →
E352K Pathogenic 0.692 pathogenic ✓ 해석 →
E357G Likely pathogenic 0.104 benign ⚠ 해석 →
G332A Likely pathogenic 0.521 ambiguous 해석 →
G499E Likely pathogenic 0.991 pathogenic ✓ 해석 →
G601V Pathogenic 0.984 pathogenic ✓ 해석 →
L609P Likely pathogenic 0.990 pathogenic ✓ 해석 →
M380T Pathogenic 0.943 pathogenic ✓ 해석 →
N155* Pathogenic — 미적재 해석 →
Q387* Pathogenic/Likely pathogenic — 미적재 해석 →
Q584* Likely pathogenic — 미적재 해석 →
R117* Pathogenic — 미적재 해석 →
R314C Pathogenic 0.798 pathogenic ✓ 해석 →
R314H Likely pathogenic 0.419 ambiguous 해석 →
R339* Pathogenic — 미적재 해석 →
R363H Conflicting classifications of pathogeni 0.564 pathogenic 해석 →
R40W Conflicting classifications of pathogeni 0.363 ambiguous 해석 →
R425C Likely pathogenic 0.890 pathogenic ✓ 해석 →
R425H Pathogenic 0.775 pathogenic ✓ 해석 →
R42W Conflicting classifications of pathogeni 0.227 benign 해석 →
R431H Pathogenic 0.607 pathogenic ✓ 해석 →
R461W Pathogenic/Likely pathogenic 0.552 ambiguous 해석 →
R5* Pathogenic — 미적재 해석 →
R500Q Pathogenic 0.435 ambiguous 해석 →
R541W Conflicting classifications of pathogeni 0.210 benign 해석 →
R560* Pathogenic — 미적재 해석 →
R581C Pathogenic/Likely pathogenic 0.620 pathogenic ✓ 해석 →
R596L Pathogenic 0.682 pathogenic ✓ 해석 →
R596Q Pathogenic 0.242 benign ⚠ 해석 →
R596W Pathogenic 0.522 ambiguous 해석 →
V365E Likely pathogenic 0.923 pathogenic ✓ 해석 →
V424M Likely pathogenic 0.492 ambiguous 해석 →
W582* Likely pathogenic — 미적재 해석 →
Y87C Likely pathogenic 0.942 pathogenic ✓ 해석 →
A150V Uncertain significance 0.130 benign 해석 →
A17S Uncertain significance 0.117 benign 해석 →
A194V Uncertain significance 0.081 benign 해석 →
A226V Uncertain significance 0.472 ambiguous 해석 →
A236T Uncertain significance 0.136 benign 해석 →
A244S Uncertain significance 0.076 benign 해석 →
A316V Uncertain significance 0.090 benign 해석 →
A490T Uncertain significance 0.079 benign 해석 →
C157R Uncertain significance 0.997 pathogenic 해석 →
C234S Uncertain significance 0.995 pathogenic 해석 →
D173H Uncertain significance 0.358 ambiguous 해석 →
D173Y Uncertain significance 0.342 ambiguous 해석 →
D216E Likely benign 0.097 benign ✓ 해석 →
D460N Uncertain significance 0.297 benign 해석 →
D595N Uncertain significance 0.262 benign 해석 →
D597Y Uncertain significance 0.264 benign 해석 →
E297V Uncertain significance 0.129 benign 해석 →
E312K Uncertain significance 0.080 benign 해석 →
E348D Uncertain significance 0.164 benign 해석 →
E435Q Uncertain significance 0.647 pathogenic 해석 →
E72K Uncertain significance 0.796 pathogenic 해석 →
F578L Likely benign 0.440 ambiguous 해석 →
G267W Uncertain significance 0.381 ambiguous 해석 →
G362R Uncertain significance 0.254 benign 해석 →
G373S Uncertain significance 0.452 ambiguous 해석 →
H147D Uncertain significance 0.404 ambiguous 해석 →
H230R Uncertain significance 0.058 benign 해석 →
I426T Uncertain significance 0.275 benign 해석 →
I438T Uncertain significance 0.065 benign 해석 →
I544V Uncertain significance 0.096 benign 해석 →
K440T Uncertain significance 0.392 ambiguous 해석 →
K610R Uncertain significance 0.102 benign 해석 →
K611N Uncertain significance 0.706 pathogenic 해석 →
L210S Conflicting classifications of pathogeni 0.050 benign 해석 →
L232H Uncertain significance 0.085 benign 해석 →
L56P Uncertain significance 0.763 pathogenic 해석 →
M380I Uncertain significance 0.959 pathogenic 해석 →
M466L Likely benign 0.058 benign ✓ 해석 →
N107D Uncertain significance 0.091 benign 해석 →
N252S Uncertain significance 0.059 benign 해석 →
N437Y Uncertain significance 0.151 benign 해석 →
N514K Conflicting classifications of pathogeni 0.170 benign 해석 →
N514S Uncertain significance 0.053 benign 해석 →
P167L Uncertain significance 0.854 pathogenic 해석 →
P197T Uncertain significance 0.096 benign 해석 →
P326R Uncertain significance 0.105 benign 해석 →
P386T Uncertain significance 0.656 pathogenic 해석 →
P451T Uncertain significance 0.452 ambiguous 해석 →
P471A Uncertain significance 0.105 benign 해석 →
P471T Uncertain significance 0.183 benign 해석 →
P534L Uncertain significance 0.084 benign 해석 →
Q153K Uncertain significance 0.063 benign 해석 →
Q188H Uncertain significance 0.172 benign 해석 →
Q33P Uncertain significance 0.169 benign 해석 →
R117Q Uncertain significance 0.087 benign 해석 →
R124Q Uncertain significance 0.077 benign 해석 →
R124W Uncertain significance 0.137 benign 해석 →
R135H Uncertain significance 0.087 benign 해석 →
R178M Uncertain significance 0.362 ambiguous 해석 →
R217Q Uncertain significance 0.117 benign 해석 →
R217W Uncertain significance 0.187 benign 해석 →
R224C Uncertain significance 0.193 benign 해석 →
R224H Likely benign 0.064 benign ✓ 해석 →
R263C Uncertain significance 0.892 pathogenic 해석 →
R263H Uncertain significance 0.697 pathogenic 해석 →
R309K Uncertain significance 0.073 benign 해석 →
R314S Uncertain significance 0.898 pathogenic 해석 →
R35Q Uncertain significance 0.077 benign 해석 →
R35W Uncertain significance 0.088 benign 해석 →
R383Q Uncertain significance 0.099 benign 해석 →
R383W Uncertain significance 0.332 benign 해석 →
R40Q Uncertain significance 0.261 benign 해석 →
R431P Uncertain significance 0.968 pathogenic 해석 →
R436Q Uncertain significance 0.099 benign 해석 →
R452K Uncertain significance 0.109 benign 해석 →
R456Q Uncertain significance 0.097 benign 해석 →
R456W Uncertain significance 0.249 benign 해석 →
R533P Uncertain significance 0.282 benign 해석 →
R533Q Uncertain significance 0.080 benign 해석 →
R533W Uncertain significance 0.112 benign 해석 →
R543C Uncertain significance 0.331 benign 해석 →
R543L Conflicting classifications of pathogeni 0.190 benign 해석 →
R560Q Uncertain significance 0.150 benign 해석 →
R608H Uncertain significance 0.407 ambiguous 해석 →
R97Q Uncertain significance 0.129 benign 해석 →
S203G Uncertain significance 0.064 benign 해석 →
S239G Uncertain significance 0.173 benign 해석 →
S318R Uncertain significance 0.142 benign 해석 →
S331L Conflicting classifications of pathogeni 0.059 benign 해석 →
S346L Uncertain significance 0.083 benign 해석 →
S368L Uncertain significance 0.080 benign 해석 →
T165M Benign/Likely benign 0.091 benign ✓ 해석 →
T46S Uncertain significance 0.056 benign 해석 →
T488M Uncertain significance 0.092 benign 해석 →
T510P Uncertain significance 0.228 benign 해석 →
T512I Uncertain significance 0.133 benign 해석 →
T64M Uncertain significance 0.081 benign 해석 →
T78M Uncertain significance 0.090 benign 해석 →
T95M Uncertain significance 0.073 benign 해석 →
V176M Uncertain significance 0.122 benign 해석 →
V258L Uncertain significance 0.133 benign 해석 →
V258M Uncertain significance 0.131 benign 해석 →
V272M Uncertain significance 0.415 ambiguous 해석 →
V365L Uncertain significance 0.844 pathogenic 해석 →
V515I Uncertain significance 0.071 benign 해석 →
V531L Uncertain significance 0.674 pathogenic 해석 →
V535I Uncertain significance 0.075 benign 해석 →
V588I Uncertain significance 0.219 benign 해석 →
A93V - 0.070 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.