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

RYR1: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
189
✓ 둘 다 양성
2
⚠ CV=병원성 / AM=양성
6
⚠ CV=양성 / AM=병원성
1
— AM 미적재
302
AM ↔ ClinVar 비교 가능 변이 198건 중 191건 일치 / 7건 불일치 — 일치도 96.5%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A152V Likely pathogenic 0.450 ambiguous 해석 →
A1577T Uncertain significance 0.689 pathogenic 해석 →
A2200V Likely pathogenic 0.297 benign ⚠ 해석 →
A2287D Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
A2350T Pathogenic; drug response 0.806 pathogenic ✓ 해석 →
A2367T Uncertain significance 0.596 pathogenic 해석 →
A2421S Conflicting classifications of pathogeni 0.113 benign 해석 →
A2421T Conflicting classifications of pathogeni 0.320 benign 해석 →
A2428S Likely pathogenic 0.149 benign ⚠ 해석 →
A2428T Likely pathogenic; drug response 0.441 ambiguous 해석 →
A2437V Likely pathogenic 0.956 pathogenic ✓ 해석 →
A3072V Conflicting classifications of pathogeni 0.830 pathogenic 해석 →
A3204V Conflicting classifications of pathogeni 0.952 pathogenic 해석 →
A3298T Conflicting classifications of pathogeni 0.070 benign 해석 →
A3709V Uncertain significance 0.952 pathogenic 해석 →
A400T Conflicting classifications of pathogeni 0.522 ambiguous 해석 →
A4329D Pathogenic 0.889 pathogenic ✓ 해석 →
A4846V Conflicting classifications of pathogeni 0.749 pathogenic 해석 →
A4894P Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A4906V Likely pathogenic 0.944 pathogenic ✓ 해석 →
A4940T Uncertain significance 0.968 pathogenic 해석 →
A612D Likely pathogenic 0.998 pathogenic ✓ 해석 →
C1685G Likely pathogenic 0.600 pathogenic ✓ 해석 →
C1685R Likely pathogenic 0.992 pathogenic ✓ 해석 →
C1685W Conflicting classifications of pathogeni 0.992 pathogenic 해석 →
C1685Y Conflicting classifications of pathogeni 0.987 pathogenic 해석 →
C2237Y Uncertain significance 0.991 pathogenic 해석 →
C229R Likely pathogenic 0.978 pathogenic ✓ 해석 →
C2363W Uncertain significance 0.993 pathogenic 해석 →
C2656* Likely pathogenic — 미적재 해석 →
C3044R Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
C3193W Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
C3304R Likely pathogenic 0.533 ambiguous 해석 →
C3402G Pathogenic 0.824 pathogenic ✓ 해석 →
C35R Pathogenic; drug response 0.984 pathogenic ✓ 해석 →
C4124* Pathogenic — 미적재 해석 →
C4664R Uncertain significance 0.895 pathogenic 해석 →
C489F Conflicting classifications of pathogeni 0.902 pathogenic 해석 →
D1056H Likely pathogenic 0.885 pathogenic ✓ 해석 →
D2129E Likely pathogenic 0.806 pathogenic ✓ 해석 →
D227V Uncertain significance 0.977 pathogenic 해석 →
D2400G Uncertain significance 0.115 benign 해석 →
D2431N Likely pathogenic 0.936 pathogenic ✓ 해석 →
D2431V Likely pathogenic 0.987 pathogenic ✓ 해석 →
D2431Y Likely pathogenic 0.979 pathogenic ✓ 해석 →
D2730G Likely pathogenic 0.941 pathogenic ✓ 해석 →
D3501Y Conflicting classifications of pathogeni 0.829 pathogenic 해석 →
D3986E Likely pathogenic 0.995 pathogenic ✓ 해석 →
D4816G Pathogenic 0.993 pathogenic ✓ 해석 →
D4918N Pathogenic 0.997 pathogenic ✓ 해석 →
D4939E Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
D4939N Uncertain significance 0.997 pathogenic 해석 →
D4939Y Likely pathogenic 0.997 pathogenic ✓ 해석 →
D544Y Likely pathogenic 0.983 pathogenic ✓ 해석 →
D60G Likely pathogenic 0.949 pathogenic ✓ 해석 →
D60N Uncertain significance 0.634 pathogenic 해석 →
E1175K Conflicting classifications of pathogeni 0.766 pathogenic 해석 →
E1319* Pathogenic — 미적재 해석 →
E160G Uncertain significance 0.975 pathogenic 해석 →
E1720* Pathogenic — 미적재 해석 →
E1740* Pathogenic — 미적재 해석 →
E176D Uncertain significance 0.935 pathogenic 해석 →
E176K Uncertain significance 0.941 pathogenic 해석 →
E1917* Conflicting classifications of pathogeni — 미적재 해석 →
E1997K Pathogenic/Likely pathogenic 0.987 pathogenic ✓ 해석 →
E2078* Pathogenic — 미적재 해석 →
E2348G Likely pathogenic 0.937 pathogenic ✓ 해석 →
E2362K Likely pathogenic 0.906 pathogenic ✓ 해석 →
E2371G Uncertain significance 0.713 pathogenic 해석 →
E2371K Pathogenic/Likely pathogenic 0.735 pathogenic ✓ 해석 →
E2404* Pathogenic — 미적재 해석 →
E2413* Pathogenic — 미적재 해석 →
E2439K Conflicting classifications of pathogeni 0.986 pathogenic 해석 →
E2545D Uncertain significance 0.295 benign 해석 →
E262* Pathogenic — 미적재 해석 →
E2764G Conflicting classifications of pathogeni 0.766 pathogenic 해석 →
E2764K Uncertain significance 0.925 pathogenic 해석 →
E2880K Uncertain significance 0.960 pathogenic 해석 →
E2925* Pathogenic — 미적재 해석 →
E3035Q Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
E3104K Likely pathogenic; drug response 0.914 pathogenic ✓ 해석 →
E320K Pathogenic/Likely pathogenic 0.926 pathogenic ✓ 해석 →
E3271K Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
E3391* Likely pathogenic — 미적재 해석 →
E342* Pathogenic — 미적재 해석 →
E342K Likely pathogenic 0.876 pathogenic ✓ 해석 →
E3610* Likely pathogenic — 미적재 해석 →
E3749* Pathogenic — 미적재 해석 →
E3776* Pathogenic — 미적재 해석 →
E3853K Conflicting classifications of pathogeni 0.916 pathogenic 해석 →
E3853Q Likely pathogenic 0.770 pathogenic ✓ 해석 →
E396K Likely pathogenic 0.877 pathogenic ✓ 해석 →
E396S Conflicting classifications of pathogeni 0.901 pathogenic 해석 →
E4049D Likely pathogenic 0.905 pathogenic ✓ 해석 →
E4049L Likely pathogenic 0.995 pathogenic ✓ 해석 →
E4049Q Likely pathogenic 0.934 pathogenic ✓ 해석 →
E4167* Pathogenic/Likely pathogenic — 미적재 해석 →
E4171* Pathogenic — 미적재 해석 →
E4181K Likely pathogenic 0.969 pathogenic ✓ 해석 →
E4205* Pathogenic — 미적재 해석 →
E4243D Likely pathogenic 0.996 pathogenic ✓ 해석 →
E4243K Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
E4256* Pathogenic — 미적재 해석 →
E4277* Pathogenic — 미적재 해석 →
E4410* Pathogenic — 미적재 해석 →
E4494* Pathogenic — 미적재 해석 →
E4500* Pathogenic — 미적재 해석 →
E4512* Pathogenic — 미적재 해석 →
E461* Pathogenic — 미적재 해석 →
E4634* Pathogenic — 미적재 해석 →
E4634K Pathogenic 0.769 pathogenic ✓ 해석 →
E4635G Conflicting classifications of pathogeni 0.945 pathogenic 해석 →
E4635K Pathogenic 0.976 pathogenic ✓ 해석 →
E480K Conflicting classifications of pathogeni 0.955 pathogenic 해석 →
E4901K Likely pathogenic 0.714 pathogenic ✓ 해석 →
E4911K Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
E4949* Pathogenic — 미적재 해석 →
E4977K Likely pathogenic 0.953 pathogenic ✓ 해석 →
E4977Q Conflicting classifications of pathogeni 0.762 pathogenic 해석 →
E508* Pathogenic — 미적재 해석 →
E512K Uncertain significance 0.402 ambiguous 해석 →
E554* Pathogenic — 미적재 해석 →
E664Q Likely pathogenic 0.933 pathogenic ✓ 해석 →
E669* Pathogenic — 미적재 해석 →
E689* Likely pathogenic — 미적재 해석 →
E879* Pathogenic — 미적재 해석 →
E879K Conflicting classifications of pathogeni 0.995 pathogenic 해석 →
E946* Pathogenic/Likely pathogenic — 미적재 해석 →
F2340L Uncertain significance 0.998 pathogenic 해석 →
F2364V Likely pathogenic 0.971 pathogenic ✓ 해석 →
F4194L Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
F4194L Pathogenic 1.000 pathogenic ✓ 해석 →
F41S Conflicting classifications of pathogeni 0.950 pathogenic 해석 →
F4218L Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
F4552I Likely pathogenic 0.667 pathogenic ✓ 해석 →
F4684S Uncertain significance 0.996 pathogenic 해석 →
F4808C Likely pathogenic 0.980 pathogenic ✓ 해석 →
F4808L Uncertain significance 0.996 pathogenic 해석 →
F4808N Uncertain significance 0.997 pathogenic 해석 →
F4808Y Conflicting classifications of pathogeni 0.741 pathogenic 해석 →
F4857L Pathogenic 1.000 pathogenic ✓ 해석 →
F4857S Pathogenic 0.998 pathogenic ✓ 해석 →
F4857Y Likely pathogenic 0.941 pathogenic ✓ 해석 →
F4860* Pathogenic — 미적재 해석 →
F4860S Likely pathogenic 0.998 pathogenic ✓ 해석 →
F4921L Pathogenic 0.999 pathogenic ✓ 해석 →
F4921L Likely pathogenic 0.999 pathogenic ✓ 해석 →
F4921L Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
F4921S Pathogenic 0.998 pathogenic ✓ 해석 →
F4921T Likely pathogenic 0.998 pathogenic ✓ 해석 →
F4922L Uncertain significance 0.999 pathogenic 해석 →
F4941C Likely pathogenic 0.998 pathogenic ✓ 해석 →
F4976L Pathogenic 0.999 pathogenic ✓ 해석 →
F4976L Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
F539L Likely pathogenic 0.998 pathogenic ✓ 해석 →
F539V Likely pathogenic 0.987 pathogenic ✓ 해석 →
G1085S Conflicting classifications of pathogeni 0.522 ambiguous 해석 →
G1165D Conflicting classifications of pathogeni 0.987 pathogenic 해석 →
G159R Likely pathogenic 0.995 pathogenic ✓ 해석 →
G2130R Uncertain significance 0.796 pathogenic 해석 →
G215* Pathogenic — 미적재 해석 →
G215E Uncertain significance 0.973 pathogenic 해석 →
G215R Conflicting classifications of pathogeni 0.955 pathogenic 해석 →
G2343S Conflicting classifications of pathogeni 0.314 benign 해석 →
G2365R Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
G2375A Pathogenic; drug response 0.839 pathogenic ✓ 해석 →
G2375E Likely pathogenic 0.983 pathogenic ✓ 해석 →
G2375R Likely pathogenic 0.971 pathogenic ✓ 해석 →
G2375R Likely pathogenic 0.971 pathogenic ✓ 해석 →
G2434R Pathogenic; drug response 0.998 pathogenic ✓ 해석 →
G2448D Pathogenic 0.987 pathogenic ✓ 해석 →
G248R Pathogenic 0.605 pathogenic ✓ 해석 →
G248R Likely pathogenic 0.605 pathogenic ✓ 해석 →
G248W Conflicting classifications of pathogeni 0.714 pathogenic 해석 →
G3191R Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
G341R Pathogenic 0.959 pathogenic ✓ 해석 →
G341R Pathogenic 0.959 pathogenic ✓ 해석 →
G3521R Likely pathogenic 0.997 pathogenic ✓ 해석 →
G3521S Conflicting classifications of pathogeni 0.943 pathogenic 해석 →
G3990V Pathogenic; drug response 0.993 pathogenic ✓ 해석 →
G4178S Uncertain significance 0.989 pathogenic 해석 →
G4178V Uncertain significance 0.996 pathogenic 해석 →
G422R Conflicting classifications of pathogeni 0.370 ambiguous 해석 →
G4638D Uncertain significance 0.973 pathogenic 해석 →
G4638S Conflicting classifications of pathogeni 0.667 pathogenic 해석 →
G4638V Likely pathogenic 0.979 pathogenic ✓ 해석 →
G4743S Likely pathogenic 0.896 pathogenic ✓ 해석 →
G4743V Likely pathogenic 0.992 pathogenic ✓ 해석 →
G4782R Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
G4820R Uncertain significance 0.996 pathogenic 해석 →
G4835E Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
G4891D Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G4891R Pathogenic 1.000 pathogenic ✓ 해석 →
G4891S Likely pathogenic 0.995 pathogenic ✓ 해석 →
G4895V Pathogenic 0.998 pathogenic ✓ 해석 →
G4896E Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
G4897D Likely pathogenic 0.997 pathogenic ✓ 해석 →
G4897V Pathogenic 0.997 pathogenic ✓ 해석 →
G4899E Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G4935D Pathogenic 0.998 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.