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

FOXL2: AM vs ClinVar 일치도

153 변이
✓ 둘 다 병원성
34
✓ 둘 다 양성
2
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
1
— AM 미적재
115
AM ↔ ClinVar 비교 가능 변이 38건 중 36건 일치 / 2건 불일치 — 일치도 94.7%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A66E Pathogenic 1.000 pathogenic ✓ 해석 →
E139* Pathogenic — 미적재 해석 →
E19* Pathogenic — 미적재 해석 →
E69* Pathogenic — 미적재 해석 →
E69K Pathogenic 0.989 pathogenic ✓ 해석 →
E72* Likely pathogenic — 미적재 해석 →
F112C Likely pathogenic 1.000 pathogenic ✓ 해석 →
F88I Likely pathogenic 1.000 pathogenic ✓ 해석 →
F90L Likely pathogenic 1.000 pathogenic ✓ 해석 →
F90L Likely pathogenic 1.000 pathogenic ✓ 해석 →
F90S Pathogenic 1.000 pathogenic ✓ 해석 →
G185R Likely pathogenic 0.770 pathogenic ✓ 해석 →
G187D Conflicting classifications of pathogeni 0.819 pathogenic 해석 →
H104N Pathogenic 1.000 pathogenic ✓ 해석 →
H104R Likely pathogenic 1.000 pathogenic ✓ 해석 →
H104Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
I63L Likely pathogenic 0.999 pathogenic ✓ 해석 →
I63N Likely pathogenic 1.000 pathogenic ✓ 해석 →
I84S Pathogenic 1.000 pathogenic ✓ 해석 →
I84T Pathogenic 1.000 pathogenic ✓ 해석 →
K114* Pathogenic — 미적재 해석 →
K114E Likely pathogenic 1.000 pathogenic ✓ 해석 →
K124E Likely pathogenic 1.000 pathogenic ✓ 해석 →
K164* Pathogenic — 미적재 해석 →
K54E Pathogenic 1.000 pathogenic ✓ 해석 →
K93* Pathogenic — 미적재 해석 →
K95* Pathogenic — 미적재 해석 →
L106F Likely pathogenic 1.000 pathogenic ✓ 해석 →
L130P Uncertain significance 1.000 pathogenic 해석 →
L75F Pathogenic 0.997 pathogenic ✓ 해석 →
L77P Likely pathogenic 1.000 pathogenic ✓ 해석 →
M65I Likely pathogenic 1.000 pathogenic ✓ 해석 →
M65V Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
N100D Likely pathogenic 1.000 pathogenic ✓ 해석 →
P281T Likely pathogenic 0.094 benign ⚠ 해석 →
P89Q Likely pathogenic 0.964 pathogenic ✓ 해석 →
P89R Likely pathogenic 0.960 pathogenic ✓ 해석 →
Q196* Pathogenic — 미적재 해석 →
Q208* Likely pathogenic — 미적재 해석 →
Q219* Pathogenic — 미적재 해석 →
Q262* Pathogenic — 미적재 해석 →
Q53* Pathogenic — 미적재 해석 →
Q99* Pathogenic — 미적재 해석 →
R349G Likely pathogenic 0.563 ambiguous 해석 →
S101R Likely pathogenic 1.000 pathogenic ✓ 해석 →
S107G Likely pathogenic 1.000 pathogenic ✓ 해석 →
S203* Pathogenic — 미적재 해석 →
S211* Pathogenic — 미적재 해석 →
S217F Pathogenic 0.842 pathogenic ✓ 해석 →
S254* Pathogenic — 미적재 해석 →
S263R Likely pathogenic 0.890 pathogenic ✓ 해석 →
S273* Pathogenic — 미적재 해석 →
S58* Pathogenic — 미적재 해석 →
S58W Likely pathogenic 1.000 pathogenic ✓ 해석 →
W128* Pathogenic — 미적재 해석 →
W204* Pathogenic — 미적재 해석 →
W98* Pathogenic — 미적재 해석 →
W98R Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y127* Pathogenic — 미적재 해석 →
Y194* Pathogenic — 미적재 해석 →
Y215C Pathogenic/Likely pathogenic 0.513 ambiguous 해석 →
Y258N Conflicting classifications of pathogeni 0.679 pathogenic 해석 →
Y274* Pathogenic — 미적재 해석 →
Y5* Pathogenic — 미적재 해석 →
Y57* Pathogenic — 미적재 해석 →
Y57N Likely pathogenic 0.999 pathogenic ✓ 해석 →
Y59* Pathogenic — 미적재 해석 →
Y59D Likely pathogenic 0.999 pathogenic ✓ 해석 →
Y83* Pathogenic — 미적재 해석 →
Y91* Pathogenic — 미적재 해석 →
A14P Uncertain significance 0.077 benign 해석 →
A169G Uncertain significance 0.053 benign 해석 →
A179G Benign 0.059 benign ✓ 해석 →
A183T Uncertain significance 0.082 benign 해석 →
A190T Uncertain significance 0.100 benign 해석 →
A216V Uncertain significance 0.190 benign 해석 →
A226V Uncertain significance 0.213 benign 해석 →
A242T Uncertain significance 0.097 benign 해석 →
A252T Uncertain significance 0.099 benign 해석 →
A283V Uncertain significance 0.102 benign 해석 →
A303G Uncertain significance 0.085 benign 해석 →
A303V Uncertain significance 0.153 benign 해석 →
A308G Uncertain significance 0.084 benign 해석 →
A325G Uncertain significance 0.109 benign 해석 →
A328G Uncertain significance 0.090 benign 해석 →
A71P Uncertain significance 0.086 benign 해석 →
A86P Uncertain significance 0.990 pathogenic 해석 →
C218G Uncertain significance 0.405 ambiguous 해석 →
D184A Uncertain significance 0.182 benign 해석 →
F167S Uncertain significance 0.755 pathogenic 해석 →
G125D Uncertain significance 1.000 pathogenic 해석 →
G13A Uncertain significance 0.067 benign 해석 →
G237S Uncertain significance 0.095 benign 해석 →
G240C Uncertain significance 0.245 benign 해석 →
G269S Uncertain significance 0.100 benign 해석 →
G29E Uncertain significance 0.095 benign 해석 →
G313R Uncertain significance 0.339 benign 해석 →
G37D Uncertain significance 0.124 benign 해석 →
G38A Uncertain significance 0.076 benign 해석 →
H312N Uncertain significance 0.121 benign 해석 →
I113M Uncertain significance 0.953 pathogenic 해석 →
I80M Uncertain significance 0.999 pathogenic 해석 →
K114M Uncertain significance 1.000 pathogenic 해석 →
K193R Uncertain significance 0.097 benign 해석 →
L130Q Uncertain significance 1.000 pathogenic 해석 →
L130V Uncertain significance 0.756 pathogenic 해석 →
L277P Uncertain significance 0.159 benign 해석 →
L62F Uncertain significance 1.000 pathogenic 해석 →
L75H Uncertain significance 0.998 pathogenic 해석 →
M1I Uncertain significance 0.630 pathogenic 해석 →
M264T Uncertain significance 0.307 benign 해석 →
M264V Uncertain significance 0.069 benign 해석 →
M2T Uncertain significance 0.736 pathogenic 해석 →
M356L Uncertain significance 0.140 benign 해석 →
M356T Uncertain significance 0.627 pathogenic 해석 →
P162T Uncertain significance 0.165 benign 해석 →
P205R Benign 0.570 pathogenic ⚠ 해석 →
P212A Uncertain significance 0.075 benign 해석 →
P257R Uncertain significance 0.565 pathogenic 해석 →
P267A Uncertain significance 0.124 benign 해석 →
P267T Likely benign 0.226 benign ✓ 해석 →
P268L Uncertain significance 0.314 benign 해석 →
P268T Uncertain significance 0.139 benign 해석 →
P280R Uncertain significance 0.187 benign 해석 →
P281L Uncertain significance 0.116 benign 해석 →
P290T Uncertain significance 0.102 benign 해석 →
P318Q Uncertain significance 0.098 benign 해석 →
P319R Uncertain significance 0.157 benign 해석 →
P332A Uncertain significance 0.051 benign 해석 →
P332L Uncertain significance 0.138 benign 해석 →
P51A Uncertain significance 0.074 benign 해석 →
P55S Uncertain significance 1.000 pathogenic 해석 →
P56R Uncertain significance 0.993 pathogenic 해석 →
Q219L Uncertain significance 0.721 pathogenic 해석 →
Q53K Uncertain significance 0.455 ambiguous 해석 →
R103H Uncertain significance 1.000 pathogenic 해석 →
R103L Uncertain significance 1.000 pathogenic 해석 →
R147C Uncertain significance 0.999 pathogenic 해석 →
R147G Uncertain significance 0.998 pathogenic 해석 →
R22L Uncertain significance 0.109 benign 해석 →
R373C Uncertain significance 0.626 pathogenic 해석 →
S101T Uncertain significance 0.998 pathogenic 해석 →
S238N Uncertain significance 0.172 benign 해석 →
S33R Uncertain significance 0.315 benign 해석 →
S365G Uncertain significance 0.070 benign 해석 →
S372L Uncertain significance 0.286 benign 해석 →
S70G Uncertain significance 0.824 pathogenic 해석 →
S70R Uncertain significance 0.999 pathogenic 해석 →
S70R Uncertain significance 0.999 pathogenic 해석 →
S78Y Uncertain significance 0.996 pathogenic 해석 →
V245G Uncertain significance 0.095 benign 해석 →
V270L Uncertain significance 0.125 benign 해석 →
Y143H Uncertain significance 1.000 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.