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

KCNQ1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
223
✓ 둘 다 양성
3
⚠ CV=병원성 / AM=양성
5
⚠ CV=양성 / AM=병원성
0
— AM 미적재
269
AM ↔ ClinVar 비교 가능 변이 231건 중 226건 일치 / 5건 불일치 — 일치도 97.8%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A178P Pathogenic 0.996 pathogenic ✓ 해석 →
A178T Pathogenic/Likely pathogenic 0.878 pathogenic ✓ 해석 →
A194P Uncertain significance 0.988 pathogenic 해석 →
A226V Conflicting classifications of pathogeni 0.503 ambiguous 해석 →
A283G Conflicting classifications of pathogeni 0.670 pathogenic 해석 →
A283P Likely pathogenic 0.994 pathogenic ✓ 해석 →
A2G Likely pathogenic 0.098 benign ⚠ 해석 →
A300E Conflicting classifications of pathogeni 0.982 pathogenic 해석 →
A300T Conflicting classifications of pathogeni 0.876 pathogenic 해석 →
A302E Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
A302V Pathogenic/Likely pathogenic 0.980 pathogenic ✓ 해석 →
A341E Pathogenic 0.999 pathogenic ✓ 해석 →
A341G Likely pathogenic 0.952 pathogenic ✓ 해석 →
A341V Pathogenic 0.984 pathogenic ✓ 해석 →
A344E Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
A344G Conflicting classifications of pathogeni 0.928 pathogenic 해석 →
A344T Conflicting classifications of pathogeni 0.979 pathogenic 해석 →
A344V Pathogenic 0.987 pathogenic ✓ 해석 →
A370E Likely pathogenic 0.991 pathogenic ✓ 해석 →
A370V Conflicting classifications of pathogeni 0.816 pathogenic 해석 →
A371E Likely pathogenic 0.999 pathogenic ✓ 해석 →
A371P Likely pathogenic 0.999 pathogenic ✓ 해석 →
A371T Likely pathogenic 0.991 pathogenic ✓ 해석 →
A525T Pathogenic/Likely pathogenic 0.933 pathogenic ✓ 해석 →
A525V Conflicting classifications of pathogeni 0.975 pathogenic 해석 →
A590T Conflicting classifications of pathogeni 0.306 benign 해석 →
C122Y Conflicting classifications of pathogeni 0.986 pathogenic 해석 →
C214* Pathogenic/Likely pathogenic — 미적재 해석 →
C34* Pathogenic/Likely pathogenic — 미적재 해석 →
C381Y Conflicting classifications of pathogeni 0.938 pathogenic 해석 →
D202G Pathogenic 0.997 pathogenic ✓ 해석 →
D202N Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
D242E Likely pathogenic 0.997 pathogenic ✓ 해석 →
D242N Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
D242Y Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
D301V Conflicting classifications of pathogeni 0.980 pathogenic 해석 →
D317A Likely pathogenic 0.994 pathogenic ✓ 해석 →
D317G Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
D317N Pathogenic 0.931 pathogenic ✓ 해석 →
D564G Uncertain significance 0.990 pathogenic 해석 →
D611N Uncertain significance 0.093 benign 해석 →
D611Y Conflicting classifications of pathogeni 0.247 benign 해석 →
E115G Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
E115K Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
E146G Conflicting classifications of pathogeni 0.111 benign 해석 →
E160K Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
E170K Likely pathogenic 0.997 pathogenic ✓ 해석 →
E261* Pathogenic — 미적재 해석 →
E261D Pathogenic 0.999 pathogenic ✓ 해석 →
E261K Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
E261L Pathogenic 1.000 pathogenic ✓ 해석 →
E261Q Likely pathogenic 0.995 pathogenic ✓ 해석 →
E284K Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
E39* Likely pathogenic — 미적재 해석 →
E42* Likely pathogenic — 미적재 해석 →
E487* Likely pathogenic — 미적재 해석 →
E494* Pathogenic/Likely pathogenic — 미적재 해석 →
E508* Pathogenic/Likely pathogenic — 미적재 해석 →
E596G Pathogenic 0.921 pathogenic ✓ 해석 →
F279I Pathogenic 0.824 pathogenic ✓ 해석 →
F296S Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
F339L Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
F339S Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
F339Y Conflicting classifications of pathogeni 0.953 pathogenic 해석 →
F340L Likely pathogenic 0.999 pathogenic ✓ 해석 →
F340L Likely pathogenic 0.999 pathogenic ✓ 해석 →
F351L Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G119R Conflicting classifications of pathogeni 0.961 pathogenic 해석 →
G119S Likely pathogenic 0.502 ambiguous 해석 →
G168E Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
G168R Pathogenic 0.998 pathogenic ✓ 해석 →
G168R Pathogenic 0.998 pathogenic ✓ 해석 →
G179A Likely pathogenic 0.924 pathogenic ✓ 해석 →
G179R Likely pathogenic 0.996 pathogenic ✓ 해석 →
G179S Pathogenic 0.876 pathogenic ✓ 해석 →
G186C Likely pathogenic 0.954 pathogenic ✓ 해석 →
G186D Pathogenic/Likely pathogenic 0.975 pathogenic ✓ 해석 →
G186R Conflicting classifications of pathogeni 0.985 pathogenic 해석 →
G186S Likely pathogenic 0.738 pathogenic ✓ 해석 →
G186V Pathogenic 0.986 pathogenic ✓ 해석 →
G189E Likely pathogenic 0.996 pathogenic ✓ 해석 →
G189R Uncertain significance 0.997 pathogenic 해석 →
G229D Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
G245* Pathogenic — 미적재 해석 →
G269D Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G269R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G269S Pathogenic 0.934 pathogenic ✓ 해석 →
G269V Pathogenic 0.994 pathogenic ✓ 해석 →
G272D Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G306R Pathogenic 1.000 pathogenic ✓ 해석 →
G306R Pathogenic 1.000 pathogenic ✓ 해석 →
G306V Likely pathogenic 0.995 pathogenic ✓ 해석 →
G314D Pathogenic 1.000 pathogenic ✓ 해석 →
G314R Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G314S Pathogenic 0.986 pathogenic ✓ 해석 →
G316A Likely pathogenic 0.989 pathogenic ✓ 해석 →
G316E Pathogenic 0.999 pathogenic ✓ 해석 →
G316R Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
G316W Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G325E Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G325R Pathogenic 0.999 pathogenic ✓ 해석 →
G325R Pathogenic 0.999 pathogenic ✓ 해석 →
G325W Likely pathogenic 0.999 pathogenic ✓ 해석 →
G345E Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G345R Pathogenic 1.000 pathogenic ✓ 해석 →
G345R Pathogenic 1.000 pathogenic ✓ 해석 →
G345V Likely pathogenic 0.997 pathogenic ✓ 해석 →
G350V Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
G568A Pathogenic/Likely pathogenic 0.956 pathogenic ✓ 해석 →
G568E Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
G568R Likely pathogenic 0.993 pathogenic ✓ 해석 →
G568R Pathogenic/Likely pathogenic 0.993 pathogenic ✓ 해석 →
G589D Pathogenic 0.994 pathogenic ✓ 해석 →
G589S Conflicting classifications of pathogeni 0.525 ambiguous 해석 →
G626S Uncertain significance 0.079 benign 해석 →
H126L Conflicting classifications of pathogeni 0.982 pathogenic 해석 →
H258P Pathogenic 0.993 pathogenic ✓ 해석 →
H258R Likely pathogenic 0.998 pathogenic ✓ 해석 →
H363N Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
I204M Conflicting classifications of pathogeni 0.173 benign 해석 →
I227L Likely pathogenic 0.294 benign ⚠ 해석 →
I235L Likely pathogenic 0.864 pathogenic ✓ 해석 →
I235N Pathogenic 0.997 pathogenic ✓ 해석 →
I268S Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
I274N Likely pathogenic 0.994 pathogenic ✓ 해석 →
I274V Conflicting classifications of pathogeni 0.455 ambiguous 해석 →
I313F Conflicting classifications of pathogeni 0.991 pathogenic 해석 →
I337F Conflicting classifications of pathogeni 0.966 pathogenic 해석 →
I514T Conflicting classifications of pathogeni 0.964 pathogenic 해석 →
I567T Pathogenic/Likely pathogenic 0.645 pathogenic ✓ 해석 →
I588F Conflicting classifications of pathogeni 0.702 pathogenic 해석 →
I588T Likely pathogenic 0.597 pathogenic ✓ 해석 →
K13* Pathogenic — 미적재 해석 →
K32* Pathogenic — 미적재 해석 →
K362R Pathogenic/Likely pathogenic 0.873 pathogenic ✓ 해석 →
K393M Conflicting classifications of pathogeni 0.458 ambiguous 해석 →
K414* Pathogenic — 미적재 해석 →
K515N Conflicting classifications of pathogeni 0.914 pathogenic 해석 →
K526E Conflicting classifications of pathogeni 0.967 pathogenic 해석 →
K527E Likely pathogenic 0.902 pathogenic ✓ 해석 →
K557E Pathogenic 0.999 pathogenic ✓ 해석 →
L101* Pathogenic — 미적재 해석 →
L114P Likely pathogenic 0.999 pathogenic ✓ 해석 →
L134P Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
L137F Conflicting classifications of pathogeni 0.961 pathogenic 해석 →
L156P Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
L187P Conflicting classifications of pathogeni 0.212 benign 해석 →
L187R Conflicting classifications of pathogeni 0.658 pathogenic 해석 →
L191P Pathogenic 0.934 pathogenic ✓ 해석 →
L203P Pathogenic 0.998 pathogenic ✓ 해석 →
L233M Likely pathogenic 0.892 pathogenic ✓ 해석 →
L233P Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
L236P Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
L236R Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
L239P Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
L251P Pathogenic 0.999 pathogenic ✓ 해석 →
L251Q Likely pathogenic 0.999 pathogenic ✓ 해석 →
L262P Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
L262Q Likely pathogenic 0.999 pathogenic ✓ 해석 →
L262R Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
L266M Conflicting classifications of pathogeni 0.406 ambiguous 해석 →
L266P Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
L266Q Likely pathogenic 0.992 pathogenic ✓ 해석 →
L266R Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
L273F Likely pathogenic 0.976 pathogenic ✓ 해석 →
L273I Likely pathogenic 0.883 pathogenic ✓ 해석 →
L273P Likely pathogenic 0.999 pathogenic ✓ 해석 →
L273R Likely pathogenic 0.998 pathogenic ✓ 해석 →
L273V Uncertain significance 0.890 pathogenic 해석 →
L282P Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
L303P Likely pathogenic 0.999 pathogenic ✓ 해석 →
L342F Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
L342H Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
L347F Likely pathogenic 0.992 pathogenic ✓ 해석 →
L374F Uncertain significance 0.988 pathogenic 해석 →
L374H Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
M1K Pathogenic 0.659 pathogenic ✓ 해석 →
M1L Pathogenic 0.206 benign ⚠ 해석 →
M520K Likely pathogenic 0.996 pathogenic ✓ 해석 →
M520R Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
M520T Pathogenic 0.990 pathogenic ✓ 해석 →
N365K Likely pathogenic 0.994 pathogenic ✓ 해석 →
P117L Likely pathogenic 0.997 pathogenic ✓ 해석 →
P117S Likely pathogenic 0.998 pathogenic ✓ 해석 →
P117T Likely pathogenic 0.996 pathogenic ✓ 해석 →
P197S Likely pathogenic 0.989 pathogenic ✓ 해석 →
P320H Pathogenic 1.000 pathogenic ✓ 해석 →
P320L Likely pathogenic 0.992 pathogenic ✓ 해석 →
P320R Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
P320S Uncertain significance 0.999 pathogenic 해석 →
P320S Pathogenic 0.999 pathogenic ✓ 해석 →
P320T Likely pathogenic 0.997 pathogenic ✓ 해석 →
P343A Pathogenic 0.990 pathogenic ✓ 해석 →
P343S Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
P369A Conflicting classifications of pathogeni 0.943 pathogenic 해석 →
P369L Conflicting classifications of pathogeni 0.960 pathogenic 해석 →
P535T Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
P570L Conflicting classifications of pathogeni 0.634 pathogenic 해석 →
Q107* Pathogenic/Likely pathogenic — 미적재 해석 →
Q107H Likely pathogenic 0.978 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.