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

LTF: AM vs ClinVar 일치도

118 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
14
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
1
— AM 미적재
103
AM ↔ ClinVar 비교 가능 변이 15건 중 14건 일치 / 1건 불일치 — 일치도 93.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A241V Uncertain significance 0.105 benign 해석 →
A276S Uncertain significance 0.120 benign 해석 →
A358T Uncertain significance 0.082 benign 해석 →
A359T Uncertain significance 0.083 benign 해석 →
A362V Uncertain significance 0.127 benign 해석 →
A368V Uncertain significance 0.241 benign 해석 →
A458V Uncertain significance 0.545 ambiguous 해석 →
A481S Uncertain significance 0.143 benign 해석 →
A580T Uncertain significance 0.081 benign 해석 →
A582V Uncertain significance 0.700 pathogenic 해석 →
A588S Uncertain significance 0.067 benign 해석 →
A69V Uncertain significance 0.114 benign 해석 →
A704T Uncertain significance 0.137 benign 해석 →
A97V Likely benign 0.088 benign ✓ 해석 →
C424R Uncertain significance 0.971 pathogenic 해석 →
C502Y Uncertain significance 0.897 pathogenic 해석 →
C646R Uncertain significance 0.939 pathogenic 해석 →
D244E Uncertain significance 0.114 benign 해석 →
D252E Uncertain significance 0.428 ambiguous 해석 →
D589Y Uncertain significance 0.523 ambiguous 해석 →
D596N Uncertain significance 0.118 benign 해석 →
D648G Likely benign 0.046 benign ✓ 해석 →
E240K Likely benign 0.054 benign ✓ 해석 →
E283D Uncertain significance 0.386 ambiguous 해석 →
E356D Uncertain significance 0.103 benign 해석 →
E371K Uncertain significance 0.062 benign 해석 →
E604D Uncertain significance 0.158 benign 해석 →
F123C Uncertain significance 0.446 ambiguous 해석 →
F215S Uncertain significance 0.901 pathogenic 해석 →
F344L Likely benign 0.179 benign ✓ 해석 →
F39L Uncertain significance 0.308 benign 해석 →
F504L Uncertain significance 0.763 pathogenic 해석 →
F653L Uncertain significance 0.983 pathogenic 해석 →
G102R Uncertain significance 0.387 ambiguous 해석 →
G121S Likely benign 0.061 benign ✓ 해석 →
G149E Uncertain significance 0.757 pathogenic 해석 →
G179S Uncertain significance 0.236 benign 해석 →
G474R Uncertain significance 0.382 ambiguous 해석 →
G515V Uncertain significance 0.859 pathogenic 해석 →
G689D Uncertain significance 0.276 benign 해석 →
H609R Uncertain significance 0.251 benign 해석 →
I324M Uncertain significance 0.096 benign 해석 →
I62N Benign 0.081 benign ✓ 해석 →
I68V Uncertain significance 0.110 benign 해석 →
K260T Uncertain significance 0.090 benign 해석 →
K304E Likely benign 0.058 benign ✓ 해석 →
K405E Uncertain significance 0.317 benign 해석 →
L128M Uncertain significance 0.277 benign 해석 →
L290F Uncertain significance 0.589 pathogenic 해석 →
L350F Uncertain significance 0.225 benign 해석 →
L522F Uncertain significance 0.310 benign 해석 →
L587M Uncertain significance 0.111 benign 해석 →
L633F Likely benign 0.062 benign ✓ 해석 →
L708F Uncertain significance 0.120 benign 해석 →
M622R Uncertain significance 0.045 benign 해석 →
N126K Uncertain significance 0.130 benign 해석 →
N433S Uncertain significance 0.151 benign 해석 →
N534K Uncertain significance 0.131 benign 해석 →
P163L Uncertain significance 0.144 benign 해석 →
P251S Uncertain significance 0.135 benign 해석 →
P303L Uncertain significance 0.098 benign 해석 →
P303R Uncertain significance 0.075 benign 해석 →
P303T Uncertain significance 0.076 benign 해석 →
P330L Uncertain significance 0.303 benign 해석 →
P331L Likely benign 0.086 benign ✓ 해석 →
P33L Uncertain significance 0.096 benign 해석 →
P450T Uncertain significance 0.105 benign 해석 →
P601T Uncertain significance 0.104 benign 해석 →
P614L Likely benign 0.576 pathogenic ⚠ 해석 →
P647R Uncertain significance 0.094 benign 해석 →
P90L Uncertain significance 0.218 benign 해석 →
P95S Uncertain significance 0.801 pathogenic 해석 →
Q184H Uncertain significance 0.124 benign 해석 →
Q26H Uncertain significance 0.177 benign 해석 →
Q498E Uncertain significance 0.069 benign 해석 →
R190H Uncertain significance 0.068 benign 해석 →
R21C Uncertain significance 0.275 benign 해석 →
R255Q Uncertain significance 0.126 benign 해석 →
R255W Uncertain significance 0.170 benign 해석 →
R360P Uncertain significance 0.470 ambiguous 해석 →
R360W Uncertain significance 0.121 benign 해석 →
R375C Uncertain significance 0.324 benign 해석 →
R49C Uncertain significance 0.338 benign 해석 →
R49H Uncertain significance 0.108 benign 해석 →
R49L Uncertain significance 0.129 benign 해석 →
R552W Uncertain significance 0.649 pathogenic 해석 →
R599Q Uncertain significance 0.092 benign 해석 →
R599W Uncertain significance 0.232 benign 해석 →
R621W Uncertain significance 0.215 benign 해석 →
R627C Uncertain significance 0.163 benign 해석 →
R627H Likely benign 0.063 benign ✓ 해석 →
R627L Uncertain significance 0.085 benign 해석 →
S387I Uncertain significance 0.101 benign 해석 →
S392L Likely benign 0.074 benign ✓ 해석 →
S540N Likely benign 0.089 benign ✓ 해석 →
S607R Uncertain significance 0.207 benign 해석 →
S655Y Uncertain significance 0.802 pathogenic 해석 →
T158M Uncertain significance 0.085 benign 해석 →
T36A Uncertain significance 0.062 benign 해석 →
T691S Uncertain significance 0.070 benign 해석 →
V116M Uncertain significance 0.243 benign 해석 →
V225M Uncertain significance 0.609 pathogenic 해석 →
V30L Uncertain significance 0.160 benign 해석 →
V364F Uncertain significance 0.334 benign 해석 →
V365M Uncertain significance 0.132 benign 해석 →
V369A Uncertain significance 0.203 benign 해석 →
V388M Uncertain significance 0.284 benign 해석 →
V451M Benign 0.112 benign ✓ 해석 →
V482L Benign 0.195 benign ✓ 해석 →
V482M Uncertain significance 0.130 benign 해석 →
V618M Uncertain significance 0.490 ambiguous 해석 →
V96A Uncertain significance 0.395 ambiguous 해석 →
W380R Uncertain significance 0.991 pathogenic 해석 →
Y246C Uncertain significance 0.864 pathogenic 해석 →
K565R - 0.140 benign 해석 →
L632M - 0.199 benign 해석 →
Q292H - 0.183 benign 해석 →
R552L - 0.839 pathogenic 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.