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

MTHFD1: AM vs ClinVar 일치도

242 변이
✓ 둘 다 병원성
5
✓ 둘 다 양성
11
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
226
AM ↔ ClinVar 비교 가능 변이 16건 중 16건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
E106* Pathogenic — 미적재 해석 →
E225* Pathogenic — 미적재 해석 →
E296* Pathogenic — 미적재 해석 →
E603* Likely pathogenic — 미적재 해석 →
E850* Pathogenic — 미적재 해석 →
G276R Pathogenic 0.958 pathogenic ✓ 해석 →
L51P Likely pathogenic 0.790 pathogenic ✓ 해석 →
Q100* Likely pathogenic — 미적재 해석 →
Q411* Pathogenic — 미적재 해석 →
Q877* Likely pathogenic — 미적재 해석 →
R173C Pathogenic/Likely pathogenic 0.671 pathogenic ✓ 해석 →
R324* Pathogenic — 미적재 해석 →
R336* Likely pathogenic — 미적재 해석 →
S49F Pathogenic/Likely pathogenic 0.953 pathogenic ✓ 해석 →
T269I Likely pathogenic 0.898 pathogenic ✓ 해석 →
W226* Pathogenic — 미적재 해석 →
A132T Uncertain significance 0.193 benign 해석 →
A136G Uncertain significance 0.230 benign 해석 →
A136T Uncertain significance 0.223 benign 해석 →
A18V Likely benign 0.099 benign ✓ 해석 →
A200V Likely benign 0.076 benign ✓ 해석 →
A265V Uncertain significance 0.380 ambiguous 해석 →
A407G Uncertain significance 0.216 benign 해석 →
A458V Uncertain significance 0.940 pathogenic 해석 →
A474P Uncertain significance 0.539 ambiguous 해석 →
A474T Uncertain significance 0.309 benign 해석 →
A571S Uncertain significance 0.472 ambiguous 해석 →
A655T Uncertain significance 0.851 pathogenic 해석 →
A722V Uncertain significance 0.096 benign 해석 →
A799G Uncertain significance 0.060 benign 해석 →
C143S Uncertain significance 0.273 benign 해석 →
C326Y Uncertain significance 0.180 benign 해석 →
C785R Uncertain significance 0.985 pathogenic 해석 →
D244Y Uncertain significance 0.104 benign 해석 →
D259H Uncertain significance 0.086 benign 해석 →
D319E Uncertain significance 0.982 pathogenic 해석 →
D445N Uncertain significance 0.974 pathogenic 해석 →
D47V Uncertain significance 0.236 benign 해석 →
D491N Uncertain significance 0.077 benign 해석 →
D604V Uncertain significance 0.947 pathogenic 해석 →
D652H Uncertain significance 0.996 pathogenic 해석 →
D674A Uncertain significance 0.987 pathogenic 해석 →
D768V Uncertain significance 0.106 benign 해석 →
D824N Uncertain significance 0.090 benign 해석 →
D890N Uncertain significance 0.454 ambiguous 해석 →
D91V Uncertain significance 0.289 benign 해석 →
E204K Conflicting classifications of pathogeni 0.056 benign 해석 →
E384V Uncertain significance 0.992 pathogenic 해석 →
E603K Uncertain significance 0.675 pathogenic 해석 →
E662G Uncertain significance 0.098 benign 해석 →
E732A Uncertain significance 0.114 benign 해석 →
E732K Uncertain significance 0.087 benign 해석 →
E80V Uncertain significance 0.220 benign 해석 →
E844K Likely benign 0.099 benign ✓ 해석 →
E929Q Uncertain significance 0.117 benign 해석 →
F294S Uncertain significance 0.224 benign 해석 →
F294V Uncertain significance 0.175 benign 해석 →
F518L Uncertain significance 0.979 pathogenic 해석 →
F518Y Uncertain significance 0.627 pathogenic 해석 →
F680L Uncertain significance 0.976 pathogenic 해석 →
F919I Uncertain significance 0.576 pathogenic 해석 →
G160E Uncertain significance 0.210 benign 해석 →
G160R Uncertain significance 0.175 benign 해석 →
G165R Uncertain significance 0.567 pathogenic 해석 →
G230E Uncertain significance 0.314 benign 해석 →
G237E Uncertain significance 0.967 pathogenic 해석 →
G274S Uncertain significance 0.548 ambiguous 해석 →
G274V Uncertain significance 0.926 pathogenic 해석 →
G444S Uncertain significance 0.947 pathogenic 해석 →
G501V Uncertain significance 0.456 ambiguous 해석 →
G554D Uncertain significance 0.224 benign 해석 →
G660D Uncertain significance 0.676 pathogenic 해석 →
G689S Uncertain significance 0.089 benign 해석 →
G709S Uncertain significance 0.255 benign 해석 →
G734A Uncertain significance 0.878 pathogenic 해석 →
G883D Uncertain significance 0.162 benign 해석 →
H400Q Uncertain significance 0.334 benign 해석 →
H644R Uncertain significance 0.973 pathogenic 해석 →
H693D Uncertain significance 0.069 benign 해석 →
H693Q Uncertain significance 0.167 benign 해석 →
H693Y Uncertain significance 0.219 benign 해석 →
I118T Uncertain significance 0.318 benign 해석 →
I118V Uncertain significance 0.070 benign 해석 →
I130V Uncertain significance 0.063 benign 해석 →
I232T Uncertain significance 0.188 benign 해석 →
I234V Uncertain significance 0.145 benign 해석 →
I238L Uncertain significance 0.387 ambiguous 해석 →
I320T Uncertain significance 0.200 benign 해석 →
I331T Uncertain significance 0.199 benign 해석 →
I391V Uncertain significance 0.060 benign 해석 →
I40M Uncertain significance 0.458 ambiguous 해석 →
I464V Uncertain significance 0.079 benign 해석 →
I502F Uncertain significance 0.251 benign 해석 →
I502T Uncertain significance 0.486 ambiguous 해석 →
I515L Uncertain significance 0.194 benign 해석 →
I515R Uncertain significance 0.150 benign 해석 →
I563M Uncertain significance 0.892 pathogenic 해석 →
I649V Uncertain significance 0.074 benign 해석 →
I650M Uncertain significance 0.132 benign 해석 →
I742T Uncertain significance 0.187 benign 해석 →
I828V Uncertain significance 0.073 benign 해석 →
I862V Uncertain significance 0.067 benign 해석 →
K10R Uncertain significance 0.087 benign 해석 →
K134R Benign 0.078 benign ✓ 해석 →
K302E Uncertain significance 0.107 benign 해석 →
K313N Uncertain significance 0.280 benign 해석 →
K333N Uncertain significance 0.116 benign 해석 →
K473E Uncertain significance 0.143 benign 해석 →
K498T Uncertain significance 0.101 benign 해석 →
K504N Uncertain significance 0.402 ambiguous 해석 →
K595R Uncertain significance 0.058 benign 해석 →
K657R Uncertain significance 0.143 benign 해석 →
K684R Uncertain significance 0.624 pathogenic 해석 →
K705R Uncertain significance 0.484 ambiguous 해석 →
K71N Uncertain significance 0.354 ambiguous 해석 →
K739N Uncertain significance 0.345 ambiguous 해석 →
L20R Uncertain significance 0.731 pathogenic 해석 →
L20V Uncertain significance 0.197 benign 해석 →
L347S Uncertain significance 0.237 benign 해석 →
L728Q Uncertain significance 0.132 benign 해석 →
L738S Uncertain significance 0.937 pathogenic 해석 →
L767V Uncertain significance 0.094 benign 해석 →
L769F Benign/Likely benign 0.117 benign ✓ 해석 →
L773H Uncertain significance 0.178 benign 해석 →
L798M Uncertain significance 0.495 ambiguous 해석 →
L934S Uncertain significance 0.989 pathogenic 해석 →
M221I Uncertain significance 0.357 ambiguous 해석 →
M278I Uncertain significance 0.918 pathogenic 해석 →
M615T Uncertain significance 0.956 pathogenic 해석 →
M624T Uncertain significance 0.974 pathogenic 해석 →
M706V Uncertain significance 0.452 ambiguous 해석 →
M864V Uncertain significance 0.175 benign 해석 →
M907I Uncertain significance 0.733 pathogenic 해석 →
N131S Likely benign 0.054 benign ✓ 해석 →
N141S Uncertain significance 0.064 benign 해석 →
N207Y Uncertain significance 0.090 benign 해석 →
N54S Uncertain significance 0.063 benign 해석 →
N859K Uncertain significance 0.132 benign 해석 →
N859S Uncertain significance 0.062 benign 해석 →
N8K Uncertain significance 0.249 benign 해석 →
P219T Uncertain significance 0.147 benign 해석 →
P229S Uncertain significance 0.116 benign 해석 →
P247R Uncertain significance 0.091 benign 해석 →
P247S Uncertain significance 0.093 benign 해석 →
P277R Uncertain significance 0.760 pathogenic 해석 →
P315A Uncertain significance 0.189 benign 해석 →
P328L Conflicting classifications of pathogeni 0.150 benign 해석 →
P330A Uncertain significance 0.073 benign 해석 →
P381S Uncertain significance 0.773 pathogenic 해석 →
P381T Uncertain significance 0.864 pathogenic 해석 →
P638L Uncertain significance 0.987 pathogenic 해석 →
P661S Uncertain significance 0.095 benign 해석 →
P73R Uncertain significance 0.318 benign 해석 →
P751L Uncertain significance 0.352 ambiguous 해석 →
Q23R Uncertain significance 0.097 benign 해석 →
Q285K Uncertain significance 0.124 benign 해석 →
Q306R Uncertain significance 0.074 benign 해석 →
Q30R Uncertain significance 0.079 benign 해석 →
Q431L Uncertain significance 0.751 pathogenic 해석 →
Q803R Likely benign 0.087 benign ✓ 해석 →
R173G Uncertain significance 0.940 pathogenic 해석 →
R173H Uncertain significance 0.629 pathogenic 해석 →
R264K Uncertain significance 0.070 benign 해석 →
R293C Uncertain significance 0.097 benign 해석 →
R293H Conflicting classifications of pathogeni 0.081 benign 해석 →
R336Q Uncertain significance 0.075 benign 해석 →
R366W Uncertain significance 0.096 benign 해석 →
R37C Uncertain significance 0.078 benign 해석 →
R37H Uncertain significance 0.099 benign 해석 →
R463Q Uncertain significance 0.876 pathogenic 해석 →
R495Q Uncertain significance 0.087 benign 해석 →
R496K Uncertain significance 0.875 pathogenic 해석 →
R557W Uncertain significance 0.686 pathogenic 해석 →
R585K Uncertain significance 0.384 ambiguous 해석 →
R653Q Benign/Likely benign 0.068 benign ✓ 해석 →
R653W Uncertain significance 0.180 benign 해석 →
R686Q Uncertain significance 0.312 benign 해석 →
R772C Uncertain significance 0.074 benign 해석 →
R772H Benign 0.061 benign ✓ 해석 →
R889C Uncertain significance 0.216 benign 해석 →
R889H Uncertain significance 0.214 benign 해석 →
R892C Uncertain significance 0.518 ambiguous 해석 →
R892H Uncertain significance 0.294 benign 해석 →
R916Q Uncertain significance 0.745 pathogenic 해석 →
S266N Uncertain significance 0.194 benign 해석 →
S325A Uncertain significance 0.066 benign 해석 →
S358L Uncertain significance 0.106 benign 해석 →
S594R Uncertain significance 0.961 pathogenic 해석 →
S688F Uncertain significance 0.968 pathogenic 해석 →
S771G Uncertain significance 0.060 benign 해석 →
S771T Uncertain significance 0.079 benign 해석 →
S92Y Uncertain significance 0.100 benign 해석 →
T111S Uncertain significance 0.107 benign 해석 →
T148M Uncertain significance 0.602 pathogenic 해석 →
T216A Uncertain significance 0.056 benign 해석 →
T216S Uncertain significance 0.152 benign 해석 →
T279R Uncertain significance 0.942 pathogenic 해석 →
T35I Uncertain significance 0.071 benign 해석 →
T388R Uncertain significance 0.985 pathogenic 해석 →
T505A Uncertain significance 0.079 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.