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

PINK1: AM vs ClinVar 일치도

222 변이
✓ 둘 다 병원성
6
✓ 둘 다 양성
11
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
204
AM ↔ ClinVar 비교 가능 변이 18건 중 17건 일치 / 1건 불일치 — 일치도 94.4%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A217D Pathogenic 0.980 pathogenic ✓ 해석 →
D430* Likely pathogenic — 미적재 해석 →
F385L Conflicting classifications of pathogeni 0.989 pathogenic 해석 →
G309D Pathogenic 0.915 pathogenic ✓ 해석 →
G409R Likely pathogenic 0.911 pathogenic ✓ 해석 →
H271Q Pathogenic 0.957 pathogenic ✓ 해석 →
L347P Pathogenic 0.978 pathogenic ✓ 해석 →
P399L Pathogenic 0.283 benign ⚠ 해석 →
Q126P Likely pathogenic 0.394 ambiguous 해석 →
Q129* Likely pathogenic — 미적재 해석 →
Q397* Likely pathogenic — 미적재 해석 →
Q456* Pathogenic — 미적재 해석 →
Q5* Pathogenic — 미적재 해석 →
Q534* Pathogenic — 미적재 해석 →
R207* Pathogenic — 미적재 해석 →
R246* Pathogenic — 미적재 해석 →
R279H Uncertain significance 0.260 benign 해석 →
R492* Pathogenic — 미적재 해석 →
R501* Pathogenic/Likely pathogenic — 미적재 해석 →
T313M Pathogenic/Likely pathogenic 0.724 pathogenic ✓ 해석 →
W222* Pathogenic — 미적재 해석 →
W222* Pathogenic — 미적재 해석 →
W437* Pathogenic — 미적재 해석 →
Y258* Pathogenic — 미적재 해석 →
Y404* Likely pathogenic — 미적재 해석 →
A124V Uncertain significance 0.164 benign 해석 →
A16V Conflicting classifications of pathogeni 0.242 benign 해석 →
A200V Uncertain significance 0.068 benign 해석 →
A211T Likely benign 0.071 benign ✓ 해석 →
A213D Uncertain significance 0.122 benign 해석 →
A232V Uncertain significance 0.215 benign 해석 →
A269T Uncertain significance 0.076 benign 해석 →
A269V Uncertain significance 0.089 benign 해석 →
A280D Uncertain significance 0.977 pathogenic 해석 →
A280T Uncertain significance 0.392 ambiguous 해석 →
A291V Uncertain significance 0.567 pathogenic 해석 →
A339T Uncertain significance 0.203 benign 해석 →
A340T Benign 0.059 benign ✓ 해석 →
A359T Conflicting classifications of pathogeni 0.419 ambiguous 해석 →
A383T Conflicting classifications of pathogeni 0.056 benign 해석 →
A38T Uncertain significance 0.108 benign 해석 →
A38V Uncertain significance 0.112 benign 해석 →
A421V Uncertain significance 0.205 benign 해석 →
A494V Conflicting classifications of pathogeni 0.091 benign 해석 →
A500G Uncertain significance 0.279 benign 해석 →
A504T Uncertain significance 0.366 ambiguous 해석 →
A504V Uncertain significance 0.508 ambiguous 해석 →
A536S Uncertain significance 0.209 benign 해석 →
A537T Uncertain significance 0.092 benign 해석 →
A54E Uncertain significance 0.102 benign 해석 →
A6V Uncertain significance 0.224 benign 해석 →
A75S Uncertain significance 0.111 benign 해석 →
C323Y Uncertain significance 0.152 benign 해석 →
C377F Uncertain significance 0.117 benign 해석 →
C40W Uncertain significance 0.062 benign 해석 →
C96W Uncertain significance 0.167 benign 해석 →
D366N Uncertain significance 0.294 benign 해석 →
D366Y Uncertain significance 0.875 pathogenic 해석 →
D430H Uncertain significance 0.463 ambiguous 해석 →
D481V Uncertain significance 0.136 benign 해석 →
D525N Uncertain significance 0.125 benign 해석 →
E112V Uncertain significance 0.630 pathogenic 해석 →
E206K Uncertain significance 0.078 benign 해석 →
E252K Uncertain significance 0.223 benign 해석 →
E392D Uncertain significance 0.108 benign 해석 →
E445K Uncertain significance 0.793 pathogenic 해석 →
E44G Uncertain significance 0.071 benign 해석 →
E468A Uncertain significance 0.229 benign 해석 →
E476K Benign 0.067 benign ✓ 해석 →
F104C Uncertain significance 0.486 ambiguous 해석 →
F315L Uncertain significance 0.990 pathogenic 해석 →
F69S Uncertain significance 0.453 ambiguous 해석 →
G105V Uncertain significance 0.388 ambiguous 해석 →
G10R Uncertain significance 0.903 pathogenic 해석 →
G150C Uncertain significance 0.451 ambiguous 해석 →
G150D Uncertain significance 0.601 pathogenic 해석 →
G163D Uncertain significance 0.797 pathogenic 해석 →
G189R Uncertain significance 0.073 benign 해석 →
G23S Conflicting classifications of pathogeni 0.110 benign 해석 →
G26R Uncertain significance 0.206 benign 해석 →
G30R Conflicting classifications of pathogeni 0.165 benign 해석 →
G30S Likely benign 0.106 benign ✓ 해석 →
G395S Uncertain significance 0.144 benign 해석 →
G39V Uncertain significance 0.096 benign 해석 →
G411S Conflicting classifications of pathogeni 0.067 benign 해석 →
G424D Uncertain significance 0.585 pathogenic 해석 →
G448R Uncertain significance 0.365 ambiguous 해석 →
G47R Uncertain significance 0.148 benign 해석 →
G53D Uncertain significance 0.124 benign 해석 →
G62R Uncertain significance 0.138 benign 해석 →
H515R Uncertain significance 0.066 benign 해석 →
I158V Uncertain significance 0.179 benign 해석 →
I233S Uncertain significance 0.947 pathogenic 해석 →
I275V Uncertain significance 0.168 benign 해석 →
I382S Uncertain significance 0.951 pathogenic 해석 →
K186E Conflicting classifications of pathogeni 0.065 benign 해석 →
K186N Conflicting classifications of pathogeni 0.139 benign 해석 →
K186Q Uncertain significance 0.079 benign 해석 →
K262N Uncertain significance 0.200 benign 해석 →
K433E Uncertain significance 0.580 pathogenic 해석 →
K526E Uncertain significance 0.075 benign 해석 →
K526N Uncertain significance 0.175 benign 해석 →
L110I Uncertain significance 0.129 benign 해석 →
L11M Uncertain significance 0.230 benign 해석 →
L148W Likely benign 0.033 benign ✓ 해석 →
L191F Uncertain significance 0.078 benign 해석 →
L216F Uncertain significance 0.097 benign 해석 →
L249V Uncertain significance 0.095 benign 해석 →
L268V Uncertain significance 0.110 benign 해석 →
L308Q Uncertain significance 0.212 benign 해석 →
L31V Uncertain significance 0.080 benign 해석 →
L396R Uncertain significance 0.691 pathogenic 해석 →
L461R Uncertain significance 0.293 benign 해석 →
L544P Uncertain significance 0.176 benign 해석 →
L67F Uncertain significance 0.061 benign 해석 →
M221T Uncertain significance 0.887 pathogenic 해석 →
M237V Uncertain significance 0.400 ambiguous 해석 →
M318L Uncertain significance 0.687 pathogenic 해석 →
M341I Conflicting classifications of pathogeni 0.209 benign 해석 →
M342I Uncertain significance 0.728 pathogenic 해석 →
M342L Uncertain significance 0.145 benign 해석 →
M342V Uncertain significance 0.376 ambiguous 해석 →
M527T Likely benign 0.323 benign ✓ 해석 →
M527V Uncertain significance 0.113 benign 해석 →
N223I Uncertain significance 0.963 pathogenic 해석 →
N367D Uncertain significance 0.961 pathogenic 해석 →
N367H Uncertain significance 0.913 pathogenic 해석 →
N367S Uncertain significance 0.759 pathogenic 해석 →
N367Y Uncertain significance 0.979 pathogenic 해석 →
N451I Uncertain significance 0.797 pathogenic 해석 →
N521T Benign/Likely benign 0.104 benign ✓ 해석 →
P138Q Uncertain significance 0.077 benign 해석 →
P138R Uncertain significance 0.069 benign 해석 →
P142L Uncertain significance 0.072 benign 해석 →
P179S Uncertain significance 0.090 benign 해석 →
P196L Uncertain significance 0.070 benign 해석 →
P209L Conflicting classifications of pathogeni 0.071 benign 해석 →
P212S Uncertain significance 0.081 benign 해석 →
P215L Uncertain significance 0.264 benign 해석 →
P215R Uncertain significance 0.290 benign 해석 →
P286L Uncertain significance 0.598 pathogenic 해석 →
P289T Uncertain significance 0.323 benign 해석 →
P289T Uncertain significance 0.323 benign 해석 →
P296L Uncertain significance 0.544 ambiguous 해석 →
P300S Uncertain significance 0.742 pathogenic 해석 →
P305A Uncertain significance 0.103 benign 해석 →
P336A Uncertain significance 0.075 benign 해석 →
P34R Uncertain significance 0.090 benign 해석 →
P374R Uncertain significance 0.085 benign 해석 →
P425S Uncertain significance 0.130 benign 해석 →
P479S Uncertain significance 0.083 benign 해석 →
P52L Uncertain significance 0.117 benign 해석 →
Q115H Uncertain significance 0.311 benign 해석 →
Q115L Benign 0.150 benign ✓ 해석 →
Q126H Uncertain significance 0.200 benign 해석 →
Q129E Uncertain significance 0.229 benign 해석 →
Q267* not provided — 미적재 해석 →
Q456R Likely benign 0.066 benign ✓ 해석 →
Q491P Uncertain significance 0.402 ambiguous 해석 →
R147C Uncertain significance 0.085 benign 해석 →
R152W Uncertain significance 0.114 benign 해석 →
R207Q Conflicting classifications of pathogeni 0.067 benign 해석 →
R246Q Uncertain significance 0.079 benign 해석 →
R263K Uncertain significance 0.081 benign 해석 →
R276Q Conflicting classifications of pathogeni 0.077 benign 해석 →
R276W Uncertain significance 0.145 benign 해석 →
R279C Uncertain significance 0.266 benign 해석 →
R302C Uncertain significance 0.084 benign 해석 →
R302H Uncertain significance 0.070 benign 해석 →
R312Q Uncertain significance 0.111 benign 해석 →
R326H Uncertain significance 0.087 benign 해석 →
R337C Uncertain significance 0.101 benign 해석 →
R337H Uncertain significance 0.076 benign 해석 →
R361G Uncertain significance 0.911 pathogenic 해석 →
R407L Uncertain significance 0.189 benign 해석 →
R407Q Uncertain significance 0.175 benign 해석 →
R407W Uncertain significance 0.272 benign 해석 →
R422C Uncertain significance 0.063 benign 해석 →
R422H Uncertain significance 0.061 benign 해석 →
R42C Uncertain significance 0.323 benign 해석 →
R464H Uncertain significance 0.114 benign 해석 →
R487S Uncertain significance 0.177 benign 해석 →
R492Q Uncertain significance 0.159 benign 해석 →
R501Q Benign/Likely benign 0.130 benign ✓ 해석 →
R543G Uncertain significance 0.091 benign 해석 →
R58K Uncertain significance 0.117 benign 해석 →
R66C Uncertain significance 0.361 ambiguous 해석 →
R68C Uncertain significance 0.213 benign 해석 →
R68P Uncertain significance 0.150 benign 해석 →
R88L Uncertain significance 0.250 benign 해석 →
R9G Uncertain significance 0.270 benign 해석 →
S284F Uncertain significance 0.187 benign 해석 →
S284Y Conflicting classifications of pathogeni 0.158 benign 해석 →
S301L Uncertain significance 0.081 benign 해석 →
S335G Uncertain significance 0.074 benign 해석 →
S393R Likely benign 0.100 benign ✓ 해석 →
S419F Uncertain significance 0.308 benign 해석 →
S419P Uncertain significance 0.765 pathogenic 해석 →
S73L Uncertain significance 0.615 pathogenic 해석 →
T133I Uncertain significance 0.131 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.