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

VHL: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
171
✓ 둘 다 양성
8
⚠ CV=병원성 / AM=양성
2
⚠ CV=양성 / AM=병원성
2
— AM 미적재
317
AM ↔ ClinVar 비교 가능 변이 183건 중 179건 일치 / 4건 불일치 — 일치도 97.8%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*214C Likely pathogenic — 미적재 해석 →
*214L Likely pathogenic — 미적재 해석 →
*214R Conflicting classifications of pathogeni — 미적재 해석 →
*214R Likely pathogenic — 미적재 해석 →
*214W Likely pathogenic — 미적재 해석 →
A122V Conflicting classifications of pathogeni 0.325 benign 해석 →
A149P Pathogenic 0.977 pathogenic ✓ 해석 →
A149S Pathogenic 0.559 ambiguous 해석 →
A149T Pathogenic 0.823 pathogenic ✓ 해석 →
A149V Likely pathogenic 0.701 pathogenic ✓ 해석 →
C162* Pathogenic — 미적재 해석 →
C162F Pathogenic 0.990 pathogenic ✓ 해석 →
C162F Pathogenic 0.990 pathogenic ✓ 해석 →
C162R Pathogenic 0.998 pathogenic ✓ 해석 →
C162S Likely pathogenic 0.760 pathogenic ✓ 해석 →
C162W Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C162Y Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
C77* Pathogenic — 미적재 해석 →
D121G Pathogenic/Likely pathogenic 0.980 pathogenic ✓ 해석 →
D121N Pathogenic 0.958 pathogenic ✓ 해석 →
D121V Likely pathogenic 0.983 pathogenic ✓ 해석 →
D126G Conflicting classifications of pathogeni 0.934 pathogenic 해석 →
D126N Uncertain significance 0.873 pathogenic 해석 →
D126Y Likely pathogenic 0.929 pathogenic ✓ 해석 →
D143E Conflicting classifications of pathogeni 0.590 pathogenic 해석 →
D197N Likely pathogenic 0.928 pathogenic ✓ 해석 →
E134* Pathogenic — 미적재 해석 →
E160* Pathogenic — 미적재 해석 →
E160V Likely pathogenic 0.966 pathogenic ✓ 해석 →
E173* Pathogenic — 미적재 해석 →
E186* Likely pathogenic — 미적재 해석 →
E37* Conflicting classifications of pathogeni — 미적재 해석 →
E52K Benign 0.081 benign ✓ 해석 →
E70* Pathogenic — 미적재 해석 →
E70G Conflicting classifications of pathogeni 0.778 pathogenic 해석 →
E70K Pathogenic/Likely pathogenic 0.677 pathogenic ✓ 해석 →
E70Q Likely pathogenic 0.323 benign ⚠ 해석 →
E94* Pathogenic — 미적재 해석 →
F119L Pathogenic 0.999 pathogenic ✓ 해석 →
F119L Pathogenic 0.999 pathogenic ✓ 해석 →
F119L Likely pathogenic 0.999 pathogenic ✓ 해석 →
F136C Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
F136S Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
F136V Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
F76I Likely pathogenic 0.951 pathogenic ✓ 해석 →
F76S Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
F76V Likely pathogenic 0.967 pathogenic ✓ 해석 →
F76Y Conflicting classifications of pathogeni 0.914 pathogenic 해석 →
G104R Conflicting classifications of pathogeni 0.786 pathogenic 해석 →
G104V Conflicting classifications of pathogeni 0.873 pathogenic 해석 →
G114R Pathogenic 0.963 pathogenic ✓ 해석 →
G114S Pathogenic/Likely pathogenic 0.646 pathogenic ✓ 해석 →
G114V Likely pathogenic 0.966 pathogenic ✓ 해석 →
G144* Pathogenic — 미적재 해석 →
G93C Pathogenic 0.988 pathogenic ✓ 해석 →
G93D Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
G93R Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
G93S Pathogenic 0.961 pathogenic ✓ 해석 →
G93V Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
H115P Likely pathogenic 0.981 pathogenic ✓ 해석 →
H115Q Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
H115R Pathogenic 0.995 pathogenic ✓ 해석 →
H115Y Pathogenic 0.984 pathogenic ✓ 해석 →
H125P Likely pathogenic 0.395 ambiguous 해석 →
H191D Likely pathogenic 0.569 pathogenic ✓ 해석 →
H191P Conflicting classifications of pathogeni 0.256 benign 해석 →
I109N Conflicting classifications of pathogeni 0.963 pathogenic 해석 →
I151L Likely pathogenic 0.870 pathogenic ✓ 해석 →
I151S Pathogenic 0.997 pathogenic ✓ 해석 →
I151T Pathogenic 0.996 pathogenic ✓ 해석 →
I151V Conflicting classifications of pathogeni 0.421 ambiguous 해석 →
I180S Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
I180V Uncertain significance 0.597 pathogenic 해석 →
I75S Pathogenic/Likely pathogenic 0.986 pathogenic ✓ 해석 →
K159* Pathogenic — 미적재 해석 →
K159E Likely pathogenic 0.944 pathogenic ✓ 해석 →
K196* Pathogenic — 미적재 해석 →
K196E Conflicting classifications of pathogeni 0.651 pathogenic 해석 →
L101P Likely pathogenic 0.987 pathogenic ✓ 해석 →
L101Q Likely pathogenic 0.957 pathogenic ✓ 해석 →
L101R Likely pathogenic 0.978 pathogenic ✓ 해석 →
L118P Pathogenic 0.992 pathogenic ✓ 해석 →
L118R Pathogenic 0.901 pathogenic ✓ 해석 →
L128F Likely pathogenic 0.803 pathogenic ✓ 해석 →
L128F Conflicting classifications of pathogeni 0.803 pathogenic 해석 →
L128P Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
L129P Conflicting classifications of pathogeni 0.985 pathogenic 해석 →
L135F Pathogenic 0.634 pathogenic ✓ 해석 →
L153Q Pathogenic/Likely pathogenic 0.976 pathogenic ✓ 해석 →
L158P Pathogenic 0.995 pathogenic ✓ 해석 →
L158R Pathogenic 0.985 pathogenic ✓ 해석 →
L158V Pathogenic 0.900 pathogenic ✓ 해석 →
L163F Pathogenic/Likely pathogenic 0.892 pathogenic ✓ 해석 →
L163I Conflicting classifications of pathogeni 0.604 pathogenic 해석 →
L163P Likely pathogenic 0.996 pathogenic ✓ 해석 →
L163R Pathogenic 0.887 pathogenic ✓ 해석 →
L169P Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
L178P Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
L178Q Pathogenic 0.990 pathogenic ✓ 해석 →
L178R Pathogenic 0.980 pathogenic ✓ 해석 →
L184P Pathogenic/Likely pathogenic 0.991 pathogenic ✓ 해석 →
L188P Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
L188Q Likely pathogenic 0.996 pathogenic ✓ 해석 →
L188R Likely pathogenic 0.983 pathogenic ✓ 해석 →
L188V Uncertain significance 0.777 pathogenic 해석 →
L198P Pathogenic/Likely pathogenic 0.924 pathogenic ✓ 해석 →
L198Q Likely pathogenic 0.701 pathogenic ✓ 해석 →
L201P Likely pathogenic 0.970 pathogenic ✓ 해석 →
L63P Uncertain significance 0.741 pathogenic 해석 →
L63Q Conflicting classifications of pathogeni 0.874 pathogenic 해석 →
L63R Likely pathogenic 0.826 pathogenic ✓ 해석 →
L89F Conflicting classifications of pathogeni 0.877 pathogenic 해석 →
L89P Pathogenic/Likely pathogenic 0.994 pathogenic ✓ 해석 →
M1V Conflicting classifications of pathogeni 0.135 benign 해석 →
M54I Likely pathogenic 0.343 ambiguous 해석 →
M54L Conflicting classifications of pathogeni 0.146 benign 해석 →
M54R Likely pathogenic 0.170 benign ⚠ 해석 →
N131K Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
N131S Pathogenic/Likely pathogenic 0.528 ambiguous 해석 →
N131Y Likely pathogenic 0.915 pathogenic ✓ 해석 →
N78D Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
N78H Pathogenic 0.987 pathogenic ✓ 해석 →
N78I Likely pathogenic 0.994 pathogenic ✓ 해석 →
N78S Pathogenic 0.882 pathogenic ✓ 해석 →
N78T Pathogenic 0.986 pathogenic ✓ 해석 →
N78Y Likely pathogenic 0.992 pathogenic ✓ 해석 →
N90I Likely pathogenic 0.988 pathogenic ✓ 해석 →
P103L Conflicting classifications of pathogeni 0.855 pathogenic 해석 →
P138L Uncertain significance 0.927 pathogenic 해석 →
P154A Likely pathogenic 0.925 pathogenic ✓ 해석 →
P154L Pathogenic 0.979 pathogenic ✓ 해석 →
P154S Pathogenic/Likely pathogenic 0.985 pathogenic ✓ 해석 →
P154T Likely pathogenic 0.987 pathogenic ✓ 해석 →
P192L Conflicting classifications of pathogeni 0.945 pathogenic 해석 →
P192R Conflicting classifications of pathogeni 0.922 pathogenic 해석 →
P192S Conflicting classifications of pathogeni 0.961 pathogenic 해석 →
P192T Conflicting classifications of pathogeni 0.949 pathogenic 해석 →
P25L Benign 0.088 benign ✓ 해석 →
P81L Pathogenic/Likely pathogenic 0.718 pathogenic ✓ 해석 →
P81Q Conflicting classifications of pathogeni 0.741 pathogenic 해석 →
P81S Benign 0.583 pathogenic ⚠ 해석 →
P81T Conflicting classifications of pathogeni 0.533 ambiguous 해석 →
P86A Pathogenic/Likely pathogenic 0.906 pathogenic ✓ 해석 →
P86L Pathogenic 0.913 pathogenic ✓ 해석 →
P86R Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
P86S Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
P95R Uncertain significance 0.690 pathogenic 해석 →
Q132* Pathogenic — 미적재 해석 →
Q132P Pathogenic/Likely pathogenic 0.944 pathogenic ✓ 해석 →
Q145* Pathogenic — 미적재 해석 →
Q164* Pathogenic — 미적재 해석 →
Q164E Conflicting classifications of pathogeni 0.661 pathogenic 해석 →
Q164H Pathogenic/Likely pathogenic 0.984 pathogenic ✓ 해석 →
Q164H Pathogenic/Likely pathogenic 0.984 pathogenic ✓ 해석 →
Q164R Pathogenic 0.948 pathogenic ✓ 해석 →
Q195* Pathogenic — 미적재 해석 →
Q73* Pathogenic — 미적재 해석 →
Q73* Pathogenic — 미적재 해석 →
Q96* Pathogenic — 미적재 해석 →
Q96P Conflicting classifications of pathogeni 0.961 pathogenic 해석 →
R107G Pathogenic/Likely pathogenic 0.871 pathogenic ✓ 해석 →
R107H Pathogenic 0.392 ambiguous 해석 →
R107P Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
R107S Pathogenic 0.953 pathogenic ✓ 해석 →
R113* Pathogenic — 미적재 해석 →
R120G Likely pathogenic 0.986 pathogenic ✓ 해석 →
R120K Likely pathogenic 0.793 pathogenic ✓ 해석 →
R161* Pathogenic — 미적재 해석 →
R161G Pathogenic 0.966 pathogenic ✓ 해석 →
R161P Pathogenic 0.997 pathogenic ✓ 해석 →
R161Q Pathogenic 0.871 pathogenic ✓ 해석 →
R167G Pathogenic 0.981 pathogenic ✓ 해석 →
R167L Pathogenic 0.974 pathogenic ✓ 해석 →
R167P Pathogenic/Likely pathogenic 0.996 pathogenic ✓ 해석 →
R167Q Pathogenic 0.879 pathogenic ✓ 해석 →
R167W Pathogenic/Likely pathogenic 0.932 pathogenic ✓ 해석 →
R176W Pathogenic 0.642 pathogenic ✓ 해석 →
R177* Pathogenic — 미적재 해석 →
R200L Likely pathogenic 0.486 ambiguous 해석 →
R200P Likely pathogenic 0.974 pathogenic ✓ 해석 →
R200W Conflicting classifications of pathogeni 0.448 ambiguous 해석 →
R210W Conflicting classifications of pathogeni 0.099 benign 해석 →
R64H Conflicting classifications of pathogeni 0.399 ambiguous 해석 →
R64P Pathogenic 0.962 pathogenic ✓ 해석 →
R64S Likely pathogenic 0.923 pathogenic ✓ 해석 →
R79G Conflicting classifications of pathogeni 0.950 pathogenic 해석 →
R79P Likely pathogenic 0.993 pathogenic ✓ 해석 →
R82G Pathogenic 0.970 pathogenic ✓ 해석 →
R82H Conflicting classifications of pathogeni 0.893 pathogenic 해석 →
R82L Pathogenic/Likely pathogenic 0.962 pathogenic ✓ 해석 →
R82P Pathogenic 0.990 pathogenic ✓ 해석 →
S111C Pathogenic 0.841 pathogenic ✓ 해석 →
S111C Pathogenic 0.841 pathogenic ✓ 해석 →
S111G Pathogenic 0.841 pathogenic ✓ 해석 →
S111N Pathogenic 0.976 pathogenic ✓ 해석 →
S111R Pathogenic 0.999 pathogenic ✓ 해석 →
S111R Pathogenic 0.999 pathogenic ✓ 해석 →
S139F Conflicting classifications of pathogeni 0.482 ambiguous 해석 →
S183* Pathogenic — 미적재 해석 →
S183L Conflicting classifications of pathogeni 0.741 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.