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

CDHR3: AM vs ClinVar 일치도

148 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
20
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
128
AM ↔ ClinVar 비교 가능 변이 20건 중 20건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A148S Uncertain significance 0.081 benign 해석 →
A158D Uncertain significance 0.772 pathogenic 해석 →
A476T Likely benign 0.115 benign ✓ 해석 →
A541D Uncertain significance 0.880 pathogenic 해석 →
A541V Uncertain significance 0.242 benign 해석 →
A798S Likely benign 0.117 benign ✓ 해석 →
A820V Uncertain significance 0.080 benign 해석 →
A852T Uncertain significance 0.070 benign 해석 →
A872D Uncertain significance 0.095 benign 해석 →
C566Y Uncertain significance 0.934 pathogenic 해석 →
C592Y Uncertain significance 0.961 pathogenic 해석 →
C744F Uncertain significance 0.078 benign 해석 →
D109V Uncertain significance 0.795 pathogenic 해석 →
D160N Uncertain significance 0.544 ambiguous 해석 →
D231N Uncertain significance 0.349 ambiguous 해석 →
D578G Uncertain significance 0.138 benign 해석 →
D594H Uncertain significance 0.921 pathogenic 해석 →
D641N Uncertain significance 0.486 ambiguous 해석 →
D851E Uncertain significance 0.088 benign 해석 →
E70D Uncertain significance 0.092 benign 해석 →
E751A Uncertain significance 0.083 benign 해석 →
E850K Uncertain significance 0.066 benign 해석 →
F101S Uncertain significance 0.513 ambiguous 해석 →
F457C Uncertain significance 0.470 ambiguous 해석 →
F94V Uncertain significance 0.383 ambiguous 해석 →
G16A Uncertain significance 0.100 benign 해석 →
G17R Uncertain significance 0.095 benign 해석 →
G29D Uncertain significance 0.185 benign 해석 →
G390E Uncertain significance 0.362 ambiguous 해석 →
G394S Likely benign 0.057 benign ✓ 해석 →
G424S Uncertain significance 0.108 benign 해석 →
G503R Uncertain significance 0.287 benign 해석 →
G607S Uncertain significance 0.121 benign 해석 →
G639R Uncertain significance 0.205 benign 해석 →
G719R Uncertain significance 0.828 pathogenic 해석 →
G779A Uncertain significance 0.309 benign 해석 →
H201R Uncertain significance 0.072 benign 해석 →
I100V Uncertain significance 0.072 benign 해석 →
I105V Uncertain significance 0.166 benign 해석 →
I410T Uncertain significance 0.045 benign 해석 →
I643T Uncertain significance 0.092 benign 해석 →
I686M Uncertain significance 0.074 benign 해석 →
I6T Uncertain significance 0.155 benign 해석 →
I721T Uncertain significance 0.178 benign 해석 →
K347N Uncertain significance 0.169 benign 해석 →
K43Q Uncertain significance 0.087 benign 해석 →
K846E Uncertain significance 0.070 benign 해석 →
L142F Uncertain significance 0.139 benign 해석 →
L142I Uncertain significance 0.079 benign 해석 →
L506F Conflicting classifications of pathogeni 0.073 benign 해석 →
L521F Uncertain significance 0.347 ambiguous 해석 →
L579V Uncertain significance 0.104 benign 해석 →
L595F Uncertain significance 0.112 benign 해석 →
M808K Uncertain significance 0.092 benign 해석 →
M808L Uncertain significance 0.097 benign 해석 →
N225D Uncertain significance 0.119 benign 해석 →
N612S Uncertain significance 0.154 benign 해석 →
N620T Uncertain significance 0.088 benign 해석 →
P178Q Uncertain significance 0.104 benign 해석 →
P234S Uncertain significance 0.845 pathogenic 해석 →
P251S Uncertain significance 0.098 benign 해석 →
P355L Uncertain significance 0.110 benign 해석 →
P355S Uncertain significance 0.083 benign 해석 →
P379S Uncertain significance 0.154 benign 해석 →
P388R Uncertain significance 0.667 pathogenic 해석 →
P439T Uncertain significance 0.245 benign 해석 →
P464L Uncertain significance 0.092 benign 해석 →
P564S Uncertain significance 0.912 pathogenic 해석 →
P599R Uncertain significance 0.198 benign 해석 →
P67L Uncertain significance 0.155 benign 해석 →
P821L Uncertain significance 0.071 benign 해석 →
P883R Uncertain significance 0.071 benign 해석 →
Q223K Uncertain significance 0.072 benign 해석 →
Q2R Uncertain significance 0.077 benign 해석 →
Q482K Uncertain significance 0.079 benign 해석 →
Q482L Uncertain significance 0.083 benign 해석 →
Q772H Uncertain significance 0.122 benign 해석 →
Q772R Uncertain significance 0.071 benign 해석 →
R166Q Likely benign 0.065 benign ✓ 해석 →
R235C Uncertain significance 0.133 benign 해석 →
R235H Likely benign 0.068 benign ✓ 해석 →
R328C Uncertain significance 0.145 benign 해석 →
R328H Likely benign 0.072 benign ✓ 해석 →
R328L Uncertain significance 0.178 benign 해석 →
R328S Uncertain significance 0.250 benign 해석 →
R473I Uncertain significance 0.068 benign 해석 →
R479L Uncertain significance 0.096 benign 해석 →
R479Q Uncertain significance 0.078 benign 해석 →
R484Q Likely benign 0.067 benign ✓ 해석 →
R600S Uncertain significance 0.164 benign 해석 →
R603C Likely benign 0.239 benign ✓ 해석 →
R603H Likely benign 0.111 benign ✓ 해석 →
R627C Uncertain significance 0.116 benign 해석 →
R627H Uncertain significance 0.062 benign 해석 →
R661K Uncertain significance 0.087 benign 해석 →
R822C Likely benign 0.100 benign ✓ 해석 →
S165N Uncertain significance 0.082 benign 해석 →
S213R Uncertain significance 0.229 benign 해석 →
S280G Uncertain significance 0.078 benign 해석 →
S605T Uncertain significance 0.082 benign 해석 →
S65P Uncertain significance 0.146 benign 해석 →
S708C Uncertain significance 0.198 benign 해석 →
T220A Uncertain significance 0.072 benign 해석 →
T253I Uncertain significance 0.191 benign 해석 →
T253N Uncertain significance 0.107 benign 해석 →
T28I Likely benign 0.125 benign ✓ 해석 →
T291A Likely benign 0.077 benign ✓ 해석 →
T525I Uncertain significance 0.341 ambiguous 해석 →
T674A Uncertain significance 0.106 benign 해석 →
T685A Uncertain significance 0.091 benign 해석 →
T689M Uncertain significance 0.106 benign 해석 →
T690I Uncertain significance 0.098 benign 해석 →
T759M Likely benign 0.054 benign ✓ 해석 →
T770A Uncertain significance 0.083 benign 해석 →
T796I Uncertain significance 0.561 ambiguous 해석 →
T806N Uncertain significance 0.084 benign 해석 →
T80S Uncertain significance 0.089 benign 해석 →
T86S Uncertain significance 0.224 benign 해석 →
V111F Uncertain significance 0.100 benign 해석 →
V118I Likely benign 0.068 benign ✓ 해석 →
V126M Uncertain significance 0.121 benign 해석 →
V208M Uncertain significance 0.157 benign 해석 →
V210G Uncertain significance 0.271 benign 해석 →
V227M Uncertain significance 0.168 benign 해석 →
V255G Uncertain significance 0.705 pathogenic 해석 →
V279A Uncertain significance 0.063 benign 해석 →
V429M Uncertain significance 0.086 benign 해석 →
V445I Likely benign 0.056 benign ✓ 해석 →
V447I Likely benign 0.059 benign ✓ 해석 →
V470M Uncertain significance 0.186 benign 해석 →
V611I Likely benign 0.064 benign ✓ 해석 →
V650F Uncertain significance 0.357 ambiguous 해석 →
V679D Uncertain significance 0.862 pathogenic 해석 →
V699I Likely benign 0.062 benign ✓ 해석 →
V715I Uncertain significance 0.074 benign 해석 →
V728M Uncertain significance 0.122 benign 해석 →
V732I Likely benign 0.066 benign ✓ 해석 →
V824L Uncertain significance 0.103 benign 해석 →
W848G Uncertain significance 0.045 benign 해석 →
Y466S Uncertain significance 0.301 benign 해석 →
Y705C Uncertain significance 0.228 benign 해석 →
Y711C Uncertain significance 0.320 benign 해석 →
Y729H Uncertain significance 0.137 benign 해석 →
Y878S Likely benign 0.046 benign ✓ 해석 →
A476P - 0.113 benign 해석 →
I62V - 0.107 benign 해석 →
N624K - 0.638 pathogenic 해석 →
R661S - 0.212 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.