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

BCKDHA: AM vs ClinVar 일치도

270 변이
✓ 둘 다 병원성
44
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
1
— AM 미적재
218
AM ↔ ClinVar 비교 가능 변이 52건 중 50건 일치 / 2건 불일치 — 일치도 96.2%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A216V Pathogenic/Likely pathogenic 0.961 pathogenic ✓ 해석 →
A220V Pathogenic/Likely pathogenic 0.953 pathogenic ✓ 해석 →
A248V Conflicting classifications of pathogeni 0.701 pathogenic 해석 →
A253G Likely pathogenic 0.350 ambiguous 해석 →
A253T Pathogenic 0.835 pathogenic ✓ 해석 →
A254D Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
A270T Likely pathogenic 0.997 pathogenic ✓ 해석 →
A285P Pathogenic 0.993 pathogenic ✓ 해석 →
A285S Likely pathogenic 0.397 ambiguous 해석 →
C258* Pathogenic — 미적재 해석 →
C258* Pathogenic/Likely pathogenic — 미적재 해석 →
C264W Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
D116G Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
D152N Pathogenic/Likely pathogenic 0.966 pathogenic ✓ 해석 →
D282H Pathogenic 0.996 pathogenic ✓ 해석 →
D302A Pathogenic 0.999 pathogenic ✓ 해석 →
D302E Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
D302G Likely pathogenic 0.998 pathogenic ✓ 해석 →
D302N Likely pathogenic 0.992 pathogenic ✓ 해석 →
E238* Pathogenic/Likely pathogenic — 미적재 해석 →
E238K Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
E327D Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
E327K Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
E398* Likely pathogenic — 미적재 해석 →
E436* Pathogenic/Likely pathogenic — 미적재 해석 →
E66* Likely pathogenic — 미적재 해석 →
E93* Pathogenic — 미적재 해석 →
F262I Likely pathogenic 0.825 pathogenic ✓ 해석 →
F409C Pathogenic/Likely pathogenic 0.914 pathogenic ✓ 해석 →
F409L Likely pathogenic 0.971 pathogenic ✓ 해석 →
F45* Likely pathogenic — 미적재 해석 →
G156D Likely pathogenic 0.997 pathogenic ✓ 해석 →
G162D Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
G162S Likely pathogenic 0.753 pathogenic ✓ 해석 →
G188W Likely pathogenic 0.995 pathogenic ✓ 해석 →
G218A Pathogenic/Likely pathogenic 0.924 pathogenic ✓ 해석 →
G249C Likely pathogenic 0.876 pathogenic ✓ 해석 →
G249S Likely pathogenic 0.372 ambiguous 해석 →
G249V Likely pathogenic 0.980 pathogenic ✓ 해석 →
G290R Likely pathogenic 0.997 pathogenic ✓ 해석 →
G290R Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
H247R Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
K107* Pathogenic — 미적재 해석 →
K311* Likely pathogenic — 미적재 해석 →
K400* Pathogenic/Likely pathogenic — 미적재 해석 →
L103P Pathogenic/Likely pathogenic 0.891 pathogenic ✓ 해석 →
L111P Pathogenic 0.989 pathogenic ✓ 해석 →
L427V Likely pathogenic 0.156 benign ⚠ 해석 →
M1I Likely pathogenic 0.397 ambiguous 해석 →
N267S Conflicting classifications of pathogeni 0.986 pathogenic 해석 →
P259H Pathogenic 0.901 pathogenic ✓ 해석 →
P259L Conflicting classifications of pathogeni 0.943 pathogenic 해석 →
Q123* Pathogenic/Likely pathogenic — 미적재 해석 →
Q157* Likely pathogenic — 미적재 해석 →
Q157P Pathogenic 0.991 pathogenic ✓ 해석 →
Q177* Pathogenic — 미적재 해석 →
Q19* Pathogenic — 미적재 해석 →
Q190* Pathogenic — 미적재 해석 →
Q322* Pathogenic — 미적재 해석 →
Q357* Pathogenic — 미적재 해석 →
Q419* Likely pathogenic — 미적재 해석 →
Q42* Pathogenic — 미적재 해석 →
Q424* Likely pathogenic — 미적재 해석 →
Q43* Pathogenic — 미적재 해석 →
Q44* Pathogenic — 미적재 해석 →
Q85* Pathogenic/Likely pathogenic — 미적재 해석 →
R117C Likely pathogenic 0.764 pathogenic ✓ 해석 →
R124Q Likely pathogenic 0.996 pathogenic ✓ 해석 →
R124W Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
R127W Conflicting classifications of pathogeni 0.982 pathogenic 해석 →
R159Q Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
R159W Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
R189C Conflicting classifications of pathogeni 0.668 pathogenic 해석 →
R189H Likely pathogenic 0.678 pathogenic ✓ 해석 →
R225W Conflicting classifications of pathogeni 0.336 benign 해석 →
R265P Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
R265Q Pathogenic/Likely pathogenic 0.989 pathogenic ✓ 해석 →
R265W Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
R287* Pathogenic — 미적재 해석 →
R287G Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
R287Q Likely pathogenic 0.953 pathogenic ✓ 해석 →
R297C Conflicting classifications of pathogeni 0.971 pathogenic 해석 →
R297H Pathogenic/Likely pathogenic 0.986 pathogenic ✓ 해석 →
R314* Pathogenic — 미적재 해석 →
R315W Conflicting classifications of pathogeni 0.264 benign 해석 →
R346C Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
R346H Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
R363W Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
S295* Pathogenic — 미적재 해석 →
S343* Pathogenic — 미적재 해석 →
S46* Pathogenic/Likely pathogenic — 미적재 해석 →
T211M Pathogenic/Likely pathogenic 0.950 pathogenic ✓ 해석 →
T310R Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
V412M Pathogenic/Likely pathogenic 0.844 pathogenic ✓ 해석 →
W11* Likely pathogenic — 미적재 해석 →
W11* Pathogenic — 미적재 해석 →
W354* Pathogenic/Likely pathogenic — 미적재 해석 →
W373* Pathogenic/Likely pathogenic — 미적재 해석 →
W374* Pathogenic/Likely pathogenic — 미적재 해석 →
Y106* Likely pathogenic — 미적재 해석 →
Y106* Pathogenic — 미적재 해석 →
Y135* Likely pathogenic — 미적재 해석 →
Y169* Pathogenic/Likely pathogenic — 미적재 해석 →
Y195* Likely pathogenic — 미적재 해석 →
Y279C Conflicting classifications of pathogeni 0.976 pathogenic 해석 →
Y331* Likely pathogenic — 미적재 해석 →
Y331* Likely pathogenic — 미적재 해석 →
Y413C Likely pathogenic 0.623 pathogenic ✓ 해석 →
Y434* Pathogenic — 미적재 해석 →
Y438* Pathogenic — 미적재 해석 →
Y438H Pathogenic/Likely pathogenic 0.970 pathogenic ✓ 해석 →
Y438N Pathogenic/Likely pathogenic 0.975 pathogenic ✓ 해석 →
A145V Likely benign 0.662 pathogenic ⚠ 해석 →
A146T Uncertain significance 0.318 benign 해석 →
A147T Uncertain significance 0.781 pathogenic 해석 →
A20V Uncertain significance 0.124 benign 해석 →
A210S Uncertain significance 0.295 benign 해석 →
A219V Uncertain significance 0.255 benign 해석 →
A21V Uncertain significance 0.141 benign 해석 →
A222T Uncertain significance 0.311 benign 해석 →
A226V Uncertain significance 0.109 benign 해석 →
A246T Likely benign 0.329 benign ✓ 해석 →
A286T Uncertain significance 0.649 pathogenic 해석 →
A309S Uncertain significance 0.278 benign 해석 →
A309T Uncertain significance 0.318 benign 해석 →
A309V Uncertain significance 0.234 benign 해석 →
A317S Uncertain significance 0.201 benign 해석 →
A344V Uncertain significance 0.525 ambiguous 해석 →
A397T Uncertain significance 0.659 pathogenic 해석 →
A418T Conflicting classifications of pathogeni 0.066 benign 해석 →
A59V Likely benign 0.529 ambiguous 해석 →
A6V Uncertain significance 0.169 benign 해석 →
A8P Uncertain significance 0.144 benign 해석 →
C258G Uncertain significance 0.574 pathogenic 해석 →
C258R Uncertain significance 0.996 pathogenic 해석 →
D152E Uncertain significance 0.979 pathogenic 해석 →
D168Y Uncertain significance 0.372 ambiguous 해석 →
D358E Uncertain significance 0.975 pathogenic 해석 →
D358G Uncertain significance 0.933 pathogenic 해석 →
D444N Uncertain significance 0.076 benign 해석 →
D50H Uncertain significance 0.311 benign 해석 →
D94E Uncertain significance 0.419 ambiguous 해석 →
E172G Uncertain significance 0.149 benign 해석 →
E312K Uncertain significance 0.842 pathogenic 해석 →
E398K Uncertain significance 0.950 pathogenic 해석 →
E93K Uncertain significance 0.509 ambiguous 해석 →
F263L Uncertain significance 0.920 pathogenic 해석 →
F304L Uncertain significance 0.809 pathogenic 해석 →
F394L Uncertain significance 0.967 pathogenic 해석 →
F409L Uncertain significance 0.971 pathogenic 해석 →
F409V Uncertain significance 0.841 pathogenic 해석 →
F443L Uncertain significance 0.949 pathogenic 해석 →
F45L Uncertain significance 0.704 pathogenic 해석 →
G143E Uncertain significance 0.999 pathogenic 해석 →
G16D Uncertain significance 0.115 benign 해석 →
G196R Uncertain significance 0.987 pathogenic 해석 →
G196S Uncertain significance 0.495 ambiguous 해석 →
G237S Uncertain significance 0.998 pathogenic 해석 →
G244V Uncertain significance 0.995 pathogenic 해석 →
G281S Uncertain significance 0.827 pathogenic 해석 →
G281V Uncertain significance 0.990 pathogenic 해석 →
H141N Uncertain significance 0.649 pathogenic 해석 →
H359P Uncertain significance 0.938 pathogenic 해석 →
H37L Uncertain significance 0.063 benign 해석 →
H430P Uncertain significance 0.989 pathogenic 해석 →
I233V Uncertain significance 0.085 benign 해석 →
I326M Uncertain significance 0.323 benign 해석 →
I326V Uncertain significance 0.114 benign 해석 →
I361V Conflicting classifications of pathogeni 0.109 benign 해석 →
I5T Uncertain significance 0.117 benign 해석 →
I68N Uncertain significance 0.877 pathogenic 해석 →
I68V Uncertain significance 0.240 benign 해석 →
I76L Uncertain significance 0.380 ambiguous 해석 →
K101N Uncertain significance 0.126 benign 해석 →
K99N Uncertain significance 0.441 ambiguous 해석 →
L112P Uncertain significance 0.997 pathogenic 해석 →
L209P Uncertain significance 0.999 pathogenic 해석 →
L22V Uncertain significance 0.068 benign 해석 →
L325F Uncertain significance 0.759 pathogenic 해석 →
L408F Uncertain significance 0.521 ambiguous 해석 →
L440P Uncertain significance 0.309 benign 해석 →
L48P Uncertain significance 0.066 benign 해석 →
M165I Uncertain significance 0.466 ambiguous 해석 →
M191I Uncertain significance 0.997 pathogenic 해석 →
M294I Uncertain significance 0.245 benign 해석 →
M294L Uncertain significance 0.069 benign 해석 →
M82I Uncertain significance 0.738 pathogenic 해석 →
N150D Uncertain significance 0.048 benign 해석 →
N150S Uncertain significance 0.057 benign 해석 →
N229S Uncertain significance 0.062 benign 해석 →
N308S Uncertain significance 0.136 benign 해석 →
N352S Uncertain significance 0.094 benign 해석 →
N404S Benign/Likely benign 0.064 benign ✓ 해석 →
N71S Uncertain significance 0.074 benign 해석 →
N90S Uncertain significance 0.081 benign 해석 →
P170S Uncertain significance 0.121 benign 해석 →
P208L Uncertain significance 0.959 pathogenic 해석 →
P214L Uncertain significance 0.844 pathogenic 해석 →
P28R Uncertain significance 0.061 benign 해석 →
P323H Uncertain significance 0.994 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.