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

RPE65: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
109
✓ 둘 다 양성
5
⚠ CV=병원성 / AM=양성
9
⚠ CV=양성 / AM=병원성
1
— AM 미적재
376
AM ↔ ClinVar 비교 가능 변이 124건 중 114건 일치 / 10건 불일치 — 일치도 91.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A145D Likely pathogenic 0.998 pathogenic ✓ 해석 →
A145P Likely pathogenic 0.991 pathogenic ✓ 해석 →
A145T Conflicting classifications of pathogeni 0.409 ambiguous 해석 →
A179V Likely pathogenic 0.975 pathogenic ✓ 해석 →
A360P Likely pathogenic 0.826 pathogenic ✓ 해석 →
A393E Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
A415T Pathogenic/Likely pathogenic 0.807 pathogenic ✓ 해석 →
A415V Likely pathogenic 0.879 pathogenic ✓ 해석 →
A434E Likely pathogenic 0.973 pathogenic ✓ 해석 →
C112* Pathogenic/Likely pathogenic — 미적재 해석 →
C169* Pathogenic — 미적재 해석 →
C231* Pathogenic — 미적재 해석 →
C330Y Likely pathogenic 0.919 pathogenic ✓ 해석 →
D110G Pathogenic 0.992 pathogenic ✓ 해석 →
D167Y Pathogenic 0.844 pathogenic ✓ 해석 →
D186N Likely pathogenic 0.149 benign ⚠ 해석 →
D477G Pathogenic/Likely pathogenic 0.085 benign ⚠ 해석 →
D482G Likely pathogenic 0.932 pathogenic ✓ 해석 →
D482N Likely pathogenic 0.877 pathogenic ✓ 해석 →
E102* Pathogenic — 미적재 해석 →
E102K Likely pathogenic 0.989 pathogenic ✓ 해석 →
E141* Pathogenic/Likely pathogenic — 미적재 해석 →
E148D Likely pathogenic 0.980 pathogenic ✓ 해석 →
E148D Likely pathogenic 0.980 pathogenic ✓ 해석 →
E148K Likely pathogenic 0.996 pathogenic ✓ 해석 →
E184* Pathogenic — 미적재 해석 →
E21* Pathogenic — 미적재 해석 →
E254D Likely pathogenic 0.977 pathogenic ✓ 해석 →
E335V Likely pathogenic 0.869 pathogenic ✓ 해석 →
E417G Likely pathogenic 0.990 pathogenic ✓ 해석 →
E417Q Likely pathogenic 0.983 pathogenic ✓ 해석 →
E462* Pathogenic/Likely pathogenic — 미적재 해석 →
E512* Likely pathogenic — 미적재 해석 →
E6* Pathogenic — 미적재 해석 →
E95Q Likely pathogenic 0.437 ambiguous 해석 →
F252S Likely pathogenic 0.988 pathogenic ✓ 해석 →
F418Y Likely pathogenic 0.773 pathogenic ✓ 해석 →
F530L Likely pathogenic 0.982 pathogenic ✓ 해석 →
F57S Pathogenic 0.975 pathogenic ✓ 해석 →
F70S Likely pathogenic 0.996 pathogenic ✓ 해석 →
F70V Conflicting classifications of pathogeni 0.931 pathogenic 해석 →
F72S Conflicting classifications of pathogeni 0.969 pathogenic 해석 →
F83L Pathogenic 0.995 pathogenic ✓ 해석 →
G104A Likely pathogenic 0.850 pathogenic ✓ 해석 →
G104D Likely pathogenic 0.999 pathogenic ✓ 해석 →
G104R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G104S Pathogenic/Likely pathogenic 0.949 pathogenic ✓ 해석 →
G104V Likely pathogenic 0.998 pathogenic ✓ 해석 →
G140E Likely pathogenic 0.853 pathogenic ✓ 해석 →
G187E Pathogenic 0.790 pathogenic ✓ 해석 →
G32C Pathogenic 0.954 pathogenic ✓ 해석 →
G333R Likely pathogenic 0.969 pathogenic ✓ 해석 →
G40D Likely pathogenic 0.986 pathogenic ✓ 해석 →
G40S Pathogenic 0.855 pathogenic ✓ 해석 →
G436R Likely pathogenic 0.995 pathogenic ✓ 해석 →
G436V Likely pathogenic 0.929 pathogenic ✓ 해석 →
G46E Likely pathogenic 0.999 pathogenic ✓ 해석 →
G484D Likely pathogenic 0.997 pathogenic ✓ 해석 →
G484V Pathogenic 0.995 pathogenic ✓ 해석 →
G48E Likely pathogenic 0.999 pathogenic ✓ 해석 →
G528V Likely pathogenic 0.992 pathogenic ✓ 해석 →
G63R Likely pathogenic 0.998 pathogenic ✓ 해석 →
H180Q Likely pathogenic 0.998 pathogenic ✓ 해석 →
H182N Likely pathogenic 0.806 pathogenic ✓ 해석 →
H182R Pathogenic 0.862 pathogenic ✓ 해석 →
H182Y Pathogenic 0.653 pathogenic ✓ 해석 →
H241L Pathogenic 0.994 pathogenic ✓ 해석 →
H313P Likely pathogenic 0.998 pathogenic ✓ 해석 →
H313R Pathogenic 0.997 pathogenic ✓ 해석 →
H527P Likely pathogenic 0.997 pathogenic ✓ 해석 →
H527R Pathogenic 0.993 pathogenic ✓ 해석 →
H527Y Pathogenic 0.997 pathogenic ✓ 해석 →
H68Y Likely pathogenic 0.871 pathogenic ✓ 해석 →
H68Y Pathogenic 0.871 pathogenic ✓ 해석 →
H76P Pathogenic 0.563 ambiguous 해석 →
I115T Conflicting classifications of pathogeni 0.943 pathogenic 해석 →
I206T Pathogenic 0.906 pathogenic ✓ 해석 →
I98H Pathogenic 0.993 pathogenic ✓ 해석 →
K216* Pathogenic — 미적재 해석 →
K236* Pathogenic/Likely pathogenic — 미적재 해석 →
K303* Pathogenic — 미적재 해석 →
K449* Likely pathogenic — 미적재 해석 →
L22P Likely pathogenic 0.882 pathogenic ✓ 해석 →
L328F Likely pathogenic 0.663 pathogenic ✓ 해석 →
L341I Likely pathogenic 0.809 pathogenic ✓ 해석 →
L341S Pathogenic 0.994 pathogenic ✓ 해석 →
L343* Pathogenic — 미적재 해석 →
L383* Pathogenic — 미적재 해석 →
L408P Pathogenic/Likely pathogenic 0.953 pathogenic ✓ 해석 →
L42F Likely pathogenic 0.300 benign ⚠ 해석 →
L437F Likely pathogenic 0.911 pathogenic ✓ 해석 →
L60P Pathogenic 0.991 pathogenic ✓ 해석 →
L67Q Likely pathogenic 0.926 pathogenic ✓ 해석 →
L67R Pathogenic 0.978 pathogenic ✓ 해석 →
M1I Pathogenic/Likely pathogenic 0.171 benign ⚠ 해석 →
M1T Likely pathogenic 0.149 benign ⚠ 해석 →
N135K Pathogenic 0.996 pathogenic ✓ 해석 →
N191D Likely pathogenic 0.946 pathogenic ✓ 해석 →
N260* Pathogenic — 미적재 해석 →
P111S Pathogenic 0.964 pathogenic ✓ 해석 →
P111T Likely pathogenic 0.919 pathogenic ✓ 해석 →
P25L Pathogenic 0.306 benign ⚠ 해석 →
P308L Likely pathogenic 0.672 pathogenic ✓ 해석 →
P363H Likely pathogenic 0.995 pathogenic ✓ 해석 →
P363L Conflicting classifications of pathogeni 0.969 pathogenic 해석 →
P363S Conflicting classifications of pathogeni 0.936 pathogenic 해석 →
P363T Pathogenic 0.931 pathogenic ✓ 해석 →
P467A Pathogenic 0.546 ambiguous 해석 →
P467S Pathogenic 0.914 pathogenic ✓ 해석 →
P467T Likely pathogenic 0.797 pathogenic ✓ 해석 →
P470L Pathogenic/Likely pathogenic 0.921 pathogenic ✓ 해석 →
Q165* Pathogenic — 미적재 해석 →
Q213* Pathogenic/Likely pathogenic — 미적재 해석 →
Q228P Conflicting classifications of pathogeni 0.885 pathogenic 해석 →
Q362* Pathogenic — 미적재 해석 →
Q4* Pathogenic — 미적재 해석 →
Q64* Pathogenic — 미적재 해석 →
R118S Pathogenic 0.988 pathogenic ✓ 해석 →
R124* Pathogenic — 미적재 해석 →
R234* Pathogenic — 미적재 해석 →
R305I Likely pathogenic 0.584 pathogenic ✓ 해석 →
R347C Likely pathogenic 0.526 ambiguous 해석 →
R347H Likely pathogenic 0.352 ambiguous 해석 →
R44* Pathogenic — 미적재 해석 →
R446S Pathogenic 0.715 pathogenic ✓ 해석 →
R44P Pathogenic 0.999 pathogenic ✓ 해석 →
R44Q Pathogenic 0.895 pathogenic ✓ 해석 →
R515W Pathogenic 0.740 pathogenic ✓ 해석 →
R81I Pathogenic 0.973 pathogenic ✓ 해석 →
R85S Likely pathogenic 0.707 pathogenic ✓ 해석 →
R91P Likely pathogenic 0.998 pathogenic ✓ 해석 →
R91Q Pathogenic 0.452 ambiguous 해석 →
R91W Pathogenic 0.887 pathogenic ✓ 해석 →
S410* Pathogenic — 미적재 해석 →
S474A Likely pathogenic 0.058 benign ⚠ 해석 →
S511R Uncertain significance 0.242 benign 해석 →
T101I Likely pathogenic 0.989 pathogenic ✓ 해석 →
T105N Uncertain significance 0.941 pathogenic 해석 →
T162P Likely pathogenic 0.786 pathogenic ✓ 해석 →
T306I Likely pathogenic 0.826 pathogenic ✓ 해석 →
V136G Likely pathogenic 0.915 pathogenic ✓ 해석 →
V172D Likely pathogenic 0.983 pathogenic ✓ 해석 →
V19M Likely pathogenic 0.302 benign ⚠ 해석 →
V240F Likely pathogenic 0.638 pathogenic ✓ 해석 →
V251G Likely pathogenic 0.906 pathogenic ✓ 해석 →
V257G Likely pathogenic 0.957 pathogenic ✓ 해석 →
V287F Likely pathogenic 0.928 pathogenic ✓ 해석 →
V443A Likely pathogenic 0.896 pathogenic ✓ 해석 →
V452G Likely pathogenic 0.685 pathogenic ✓ 해석 →
V473D Likely pathogenic 0.993 pathogenic ✓ 해석 →
W268* Pathogenic — 미적재 해석 →
W288* Likely pathogenic — 미적재 해석 →
W331* Pathogenic — 미적재 해석 →
W331* Pathogenic — 미적재 해석 →
W402* Pathogenic — 미적재 해석 →
W460* Pathogenic — 미적재 해석 →
Y12* Likely pathogenic — 미적재 해석 →
Y122* Likely pathogenic — 미적재 해석 →
Y137* Pathogenic — 미적재 해석 →
Y137* Pathogenic/Likely pathogenic — 미적재 해석 →
Y144* Pathogenic — 미적재 해석 →
Y144D Likely pathogenic 0.998 pathogenic ✓ 해석 →
Y171* Pathogenic/Likely pathogenic — 미적재 해석 →
Y239* Pathogenic/Likely pathogenic — 미적재 해석 →
Y239* Pathogenic — 미적재 해석 →
Y239D Pathogenic 0.998 pathogenic ✓ 해석 →
Y249C Pathogenic/Likely pathogenic 0.248 benign ⚠ 해석 →
Y275* Pathogenic — 미적재 해석 →
Y275* Pathogenic — 미적재 해석 →
Y304* Pathogenic/Likely pathogenic — 미적재 해석 →
Y304* Pathogenic — 미적재 해석 →
Y318* Pathogenic — 미적재 해석 →
Y318N Pathogenic 0.834 pathogenic ✓ 해석 →
Y338C Likely pathogenic 0.838 pathogenic ✓ 해석 →
Y368* Likely pathogenic — 미적재 해석 →
Y368C Likely pathogenic 0.913 pathogenic ✓ 해석 →
Y368H Pathogenic 0.979 pathogenic ✓ 해석 →
Y423* Pathogenic — 미적재 해석 →
Y431* Pathogenic/Likely pathogenic — 미적재 해석 →
Y431C Likely pathogenic 0.709 pathogenic ✓ 해석 →
Y431H Pathogenic 0.861 pathogenic ✓ 해석 →
Y433* Pathogenic — 미적재 해석 →
Y466* Pathogenic — 미적재 해석 →
Y466* Pathogenic — 미적재 해석 →
Y501* Pathogenic — 미적재 해석 →
Y501* Pathogenic — 미적재 해석 →
Y79* Pathogenic — 미적재 해석 →
Y79H Likely pathogenic 0.971 pathogenic ✓ 해석 →
Y89* Likely pathogenic — 미적재 해석 →
A132T Benign 0.215 benign ✓ 해석 →
A132V Uncertain significance 0.584 pathogenic 해석 →
A145V Uncertain significance 0.375 ambiguous 해석 →
A179T Uncertain significance 0.971 pathogenic 해석 →
A203V Uncertain significance 0.527 ambiguous 해석 →
A214V Uncertain significance 0.091 benign 해석 →
A273D Uncertain significance 0.683 pathogenic 해석 →
A28D Uncertain significance 0.986 pathogenic 해석 →
A28S Uncertain significance 0.236 benign 해석 →
A292T Uncertain significance 0.476 ambiguous 해석 →
A344V Uncertain significance 0.475 ambiguous 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.