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

FNDC3B: AM vs ClinVar 일치도

137 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
132
AM ↔ ClinVar 비교 가능 변이 5건 중 5건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A1127V Uncertain significance 0.678 pathogenic 해석 →
A1141G Uncertain significance 0.213 benign 해석 →
A116V Uncertain significance 0.162 benign 해석 →
A319V Uncertain significance 0.413 ambiguous 해석 →
A452S Benign 0.214 benign ✓ 해석 →
A618V Uncertain significance 0.131 benign 해석 →
A764T Uncertain significance 0.247 benign 해석 →
A772T Uncertain significance 0.121 benign 해석 →
A845T Uncertain significance 0.192 benign 해석 →
C1131Y Uncertain significance 0.746 pathogenic 해석 →
D261G Uncertain significance 0.211 benign 해석 →
D516E Uncertain significance 0.199 benign 해석 →
D598Y Uncertain significance 0.763 pathogenic 해석 →
D780G Uncertain significance 0.156 benign 해석 →
E1035K Uncertain significance 0.144 benign 해석 →
E1107A Uncertain significance 0.155 benign 해석 →
E266A Uncertain significance 0.181 benign 해석 →
E280D Uncertain significance 0.271 benign 해석 →
E317K Uncertain significance 0.726 pathogenic 해석 →
E617A Uncertain significance 0.123 benign 해석 →
E631K Uncertain significance 0.404 ambiguous 해석 →
E989D Benign 0.108 benign ✓ 해석 →
F1196S Uncertain significance 0.840 pathogenic 해석 →
F634C Uncertain significance 0.754 pathogenic 해석 →
G1140R Uncertain significance 0.950 pathogenic 해석 →
G167A Uncertain significance 0.234 benign 해석 →
G21R Uncertain significance 0.518 ambiguous 해석 →
G226R Uncertain significance 0.218 benign 해석 →
G239S Uncertain significance 0.085 benign 해석 →
G243R Uncertain significance 0.277 benign 해석 →
G654R Uncertain significance 0.905 pathogenic 해석 →
G731S Uncertain significance 0.120 benign 해석 →
H135L Uncertain significance 0.176 benign 해석 →
H229Y Uncertain significance 0.096 benign 해석 →
H307N Uncertain significance 0.127 benign 해석 →
H352R Uncertain significance 0.416 ambiguous 해석 →
H986R Uncertain significance 0.128 benign 해석 →
I1112T Uncertain significance 0.928 pathogenic 해석 →
I165M Uncertain significance 0.147 benign 해석 →
I165T Uncertain significance 0.339 benign 해석 →
I457V Uncertain significance 0.117 benign 해석 →
I991V Uncertain significance 0.137 benign 해석 →
K1104R Uncertain significance 0.126 benign 해석 →
K189T Uncertain significance 0.253 benign 해석 →
K953N Uncertain significance 0.726 pathogenic 해석 →
L1073F Uncertain significance 0.191 benign 해석 →
L1190S Uncertain significance 0.599 pathogenic 해석 →
L680F Uncertain significance 0.245 benign 해석 →
L680S Uncertain significance 0.246 benign 해석 →
L690V Uncertain significance 0.297 benign 해석 →
L827P Uncertain significance 0.957 pathogenic 해석 →
M1080I Uncertain significance 0.618 pathogenic 해석 →
M1169I Uncertain significance 0.336 benign 해석 →
M117T Uncertain significance 0.173 benign 해석 →
M1203V Uncertain significance 0.238 benign 해석 →
M710I Uncertain significance 0.812 pathogenic 해석 →
N1001Y Uncertain significance 0.299 benign 해석 →
N518S Uncertain significance 0.130 benign 해석 →
N732S Uncertain significance 0.165 benign 해석 →
N916S Uncertain significance 0.152 benign 해석 →
P111S Uncertain significance 0.193 benign 해석 →
P1144S Uncertain significance 0.326 benign 해석 →
P148H Uncertain significance 0.157 benign 해석 →
P191L Uncertain significance 0.136 benign 해석 →
P209L Uncertain significance 0.166 benign 해석 →
P384A Uncertain significance 0.107 benign 해석 →
P384S Uncertain significance 0.240 benign 해석 →
P595A Uncertain significance 0.123 benign 해석 →
P663S Uncertain significance 0.179 benign 해석 →
P677L Uncertain significance 0.701 pathogenic 해석 →
P695A Uncertain significance 0.673 pathogenic 해석 →
P724L Uncertain significance 0.157 benign 해석 →
P724S Uncertain significance 0.132 benign 해석 →
P78L Uncertain significance 0.398 ambiguous 해석 →
P847L Uncertain significance 0.210 benign 해석 →
P847R Uncertain significance 0.245 benign 해석 →
P958L Uncertain significance 0.582 pathogenic 해석 →
Q842E Uncertain significance 0.087 benign 해석 →
R1061Q Uncertain significance 0.190 benign 해석 →
R1130H Uncertain significance 0.141 benign 해석 →
R183Q Uncertain significance 0.130 benign 해석 →
R202H Uncertain significance 0.257 benign 해석 →
R205S Uncertain significance 0.549 ambiguous 해석 →
R252S Uncertain significance 0.283 benign 해석 →
R290K Uncertain significance 0.236 benign 해석 →
R665C Uncertain significance 0.254 benign 해석 →
R675Q Uncertain significance 0.125 benign 해석 →
R740C Uncertain significance 0.184 benign 해석 →
R740G Uncertain significance 0.443 ambiguous 해석 →
R740H Uncertain significance 0.135 benign 해석 →
R742L Uncertain significance 0.815 pathogenic 해석 →
R742W Uncertain significance 0.687 pathogenic 해석 →
R821C Likely benign 0.126 benign ✓ 해석 →
R821H Uncertain significance 0.098 benign 해석 →
R932W Uncertain significance 0.327 benign 해석 →
S1052N Uncertain significance 0.313 benign 해석 →
S1145F Uncertain significance 0.669 pathogenic 해석 →
S230G Uncertain significance 0.086 benign 해석 →
S233R Uncertain significance 0.417 ambiguous 해석 →
S257L Uncertain significance 0.173 benign 해석 →
S277L Uncertain significance 0.433 ambiguous 해석 →
S303P Uncertain significance 0.114 benign 해석 →
S590T Uncertain significance 0.080 benign 해석 →
S75F Uncertain significance 0.345 ambiguous 해석 →
S789N Uncertain significance 0.179 benign 해석 →
S798L Uncertain significance 0.146 benign 해석 →
S911C Uncertain significance 0.144 benign 해석 →
T1021M Uncertain significance 0.306 benign 해석 →
T102I Uncertain significance 0.358 ambiguous 해석 →
T1046N Uncertain significance 0.213 benign 해석 →
T139S Uncertain significance 0.144 benign 해석 →
T179S Benign 0.158 benign ✓ 해석 →
T247I Uncertain significance 0.269 benign 해석 →
T527A Uncertain significance 0.171 benign 해석 →
T585I Uncertain significance 0.523 ambiguous 해석 →
T633I Uncertain significance 0.166 benign 해석 →
T666A Uncertain significance 0.519 ambiguous 해석 →
T778I Uncertain significance 0.305 benign 해석 →
T856M Uncertain significance 0.373 ambiguous 해석 →
V1149I Uncertain significance 0.127 benign 해석 →
V1184L Uncertain significance 0.177 benign 해석 →
V318L Uncertain significance 0.701 pathogenic 해석 →
V362I Uncertain significance 0.102 benign 해석 →
V3I Uncertain significance 0.225 benign 해석 →
V708M Uncertain significance 0.692 pathogenic 해석 →
V716I Uncertain significance 0.101 benign 해석 →
V730I Uncertain significance 0.132 benign 해석 →
V738M Uncertain significance 0.233 benign 해석 →
V864I Benign 0.151 benign ✓ 해석 →
Y142H Uncertain significance 0.276 benign 해석 →
Y222C Uncertain significance 0.130 benign 해석 →
Y225C Uncertain significance 0.105 benign 해석 →
D417Y - 0.796 pathogenic 해석 →
E871Q - 0.143 benign 해석 →
N841S - 0.498 ambiguous 해석 →
Q657* - — 미적재 해석 →
R932Q - 0.199 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.