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

SHH: AM vs ClinVar 일치도

307 변이
✓ 둘 다 병원성
51
✓ 둘 다 양성
9
⚠ CV=병원성 / AM=양성
3
⚠ CV=양성 / AM=병원성
2
— AM 미적재
242
AM ↔ ClinVar 비교 가능 변이 65건 중 60건 일치 / 5건 불일치 — 일치도 92.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A110D Likely pathogenic 1.000 pathogenic ✓ 해석 →
A165V Likely pathogenic 0.998 pathogenic ✓ 해석 →
A168G Likely pathogenic 0.899 pathogenic ✓ 해석 →
A226E Likely pathogenic 0.969 pathogenic ✓ 해석 →
A226T Conflicting classifications of pathogeni 0.211 benign 해석 →
A346V Conflicting classifications of pathogeni 0.920 pathogenic 해석 →
A365T Likely pathogenic 0.951 pathogenic ✓ 해석 →
A383T Uncertain significance 0.110 benign 해석 →
A52T Likely pathogenic 0.898 pathogenic ✓ 해석 →
C19* Pathogenic — 미적재 해석 →
C198R Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
C198S Likely pathogenic 0.997 pathogenic ✓ 해석 →
C198Y Pathogenic 0.996 pathogenic ✓ 해석 →
C24* Pathogenic — 미적재 해석 →
D147N Likely pathogenic 0.999 pathogenic ✓ 해석 →
D222N Likely pathogenic 0.525 ambiguous 해석 →
D83V Likely pathogenic 0.997 pathogenic ✓ 해석 →
D88V Pathogenic 0.999 pathogenic ✓ 해석 →
E130* Pathogenic — 미적재 해석 →
E142K Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
E188Q Likely pathogenic 0.967 pathogenic ✓ 해석 →
E256* Pathogenic — 미적재 해석 →
E284* Pathogenic — 미적재 해석 →
E320* Pathogenic — 미적재 해석 →
E339* Pathogenic — 미적재 해석 →
E340* Pathogenic — 미적재 해석 →
E368* Likely pathogenic — 미적재 해석 →
E53K Likely pathogenic 1.000 pathogenic ✓ 해석 →
E53L Likely pathogenic 1.000 pathogenic ✓ 해석 →
F241L Likely pathogenic 0.996 pathogenic ✓ 해석 →
G143D Likely pathogenic 1.000 pathogenic ✓ 해석 →
G196E Conflicting classifications of pathogeni 0.990 pathogenic 해석 →
G201D Likely pathogenic 0.869 pathogenic ✓ 해석 →
G290D Benign/Likely benign 0.081 benign ✓ 해석 →
G31R Pathogenic 0.896 pathogenic ✓ 해석 →
G343D Conflicting classifications of pathogeni 0.793 pathogenic 해석 →
G352D Conflicting classifications of pathogeni 0.994 pathogenic 해석 →
H270Y Likely pathogenic 0.988 pathogenic ✓ 해석 →
I111F Pathogenic 0.993 pathogenic ✓ 해석 →
I354T Likely pathogenic 0.989 pathogenic ✓ 해석 →
K105* Pathogenic — 미적재 해석 →
K157* Pathogenic — 미적재 해석 →
L17P Likely pathogenic 0.141 benign ⚠ 해석 →
L218P Likely pathogenic 0.997 pathogenic ✓ 해석 →
L225P Likely pathogenic 0.940 pathogenic ✓ 해석 →
L233R Conflicting classifications of pathogeni 0.718 pathogenic 해석 →
L234P Likely pathogenic 0.768 pathogenic ✓ 해석 →
L266F Likely pathogenic 0.926 pathogenic ✓ 해석 →
L271P Likely pathogenic 0.997 pathogenic ✓ 해석 →
L327P Likely pathogenic 0.573 pathogenic ✓ 해석 →
N115K Pathogenic 0.999 pathogenic ✓ 해석 →
N69I Likely pathogenic 0.422 ambiguous 해석 →
P347L Pathogenic/Likely pathogenic 0.931 pathogenic ✓ 해석 →
P347Q Pathogenic 0.998 pathogenic ✓ 해석 →
P347R Likely pathogenic 0.991 pathogenic ✓ 해석 →
P424A Pathogenic 0.051 benign ⚠ 해석 →
Q100* Pathogenic — 미적재 해석 →
Q100H Pathogenic 0.978 pathogenic ✓ 해석 →
Q209* Pathogenic — 미적재 해석 →
Q437* Likely pathogenic — 미적재 해석 →
Q46* Pathogenic — 미적재 해석 →
R144H Likely pathogenic 0.999 pathogenic ✓ 해석 →
R144L Likely pathogenic 0.999 pathogenic ✓ 해석 →
R223G Likely pathogenic 0.652 pathogenic ✓ 해석 →
R28S Likely pathogenic 0.975 pathogenic ✓ 해석 →
R381P Likely pathogenic 0.982 pathogenic ✓ 해석 →
R6S Likely pathogenic 0.282 benign ⚠ 해석 →
R72* Pathogenic — 미적재 해석 →
S135* Pathogenic — 미적재 해석 →
S15* Pathogenic — 미적재 해석 →
S184L Likely pathogenic 1.000 pathogenic ✓ 해석 →
S236N Conflicting classifications of pathogeni 0.947 pathogenic 해석 →
S236R Likely pathogenic 0.997 pathogenic ✓ 해석 →
S280* Pathogenic — 미적재 해석 →
S289* Likely pathogenic — 미적재 해석 →
S362* Pathogenic — 미적재 해석 →
S362L Likely pathogenic 0.991 pathogenic ✓ 해석 →
S436* Pathogenic/Likely pathogenic — 미적재 해석 →
T150K Likely pathogenic 1.000 pathogenic ✓ 해석 →
T150R Likely pathogenic 0.999 pathogenic ✓ 해석 →
V185A Likely pathogenic 0.994 pathogenic ✓ 해석 →
V224E Pathogenic 0.992 pathogenic ✓ 해석 →
V332A Likely pathogenic 0.875 pathogenic ✓ 해석 →
W117G Pathogenic 0.999 pathogenic ✓ 해석 →
W117R Pathogenic 1.000 pathogenic ✓ 해석 →
W128* Pathogenic — 미적재 해석 →
W372* Likely pathogenic — 미적재 해석 →
W434* Pathogenic — 미적재 해석 →
W445* Likely pathogenic — 미적재 해석 →
Y141* Pathogenic — 미적재 해석 →
Y158* Pathogenic — 미적재 해석 →
Y174C Likely pathogenic 0.817 pathogenic ✓ 해석 →
Y175* Pathogenic — 미적재 해석 →
Y253* Likely pathogenic — 미적재 해석 →
Y364C Likely pathogenic 0.972 pathogenic ✓ 해석 →
Y435C Likely pathogenic 0.986 pathogenic ✓ 해석 →
A108V Uncertain significance 0.824 pathogenic 해석 →
A145P Uncertain significance 1.000 pathogenic 해석 →
A145V Uncertain significance 0.999 pathogenic 해석 →
A165E Uncertain significance 1.000 pathogenic 해석 →
A168T Uncertain significance 0.984 pathogenic 해석 →
A203S Uncertain significance 0.158 benign 해석 →
A226G Uncertain significance 0.463 ambiguous 해석 →
A227V Uncertain significance 0.200 benign 해석 →
A23P Uncertain significance 0.191 benign 해석 →
A275E Uncertain significance 0.222 benign 해석 →
A275T Uncertain significance 0.117 benign 해석 →
A275V Likely benign 0.140 benign ✓ 해석 →
A287E Uncertain significance 0.078 benign 해석 →
A303T Uncertain significance 0.197 benign 해석 →
A303V Uncertain significance 0.267 benign 해석 →
A306D Uncertain significance 0.997 pathogenic 해석 →
A306P Uncertain significance 0.947 pathogenic 해석 →
A306S Uncertain significance 0.429 ambiguous 해석 →
A306T Uncertain significance 0.848 pathogenic 해석 →
A330V Uncertain significance 0.166 benign 해석 →
A342V Uncertain significance 0.086 benign 해석 →
A350S Uncertain significance 0.089 benign 해석 →
A361V Uncertain significance 0.330 benign 해석 →
A365V Uncertain significance 0.965 pathogenic 해석 →
A373G Uncertain significance 0.572 pathogenic 해석 →
A376D Uncertain significance 0.991 pathogenic 해석 →
A378T Uncertain significance 0.127 benign 해석 →
A389T Uncertain significance 0.091 benign 해석 →
A391T Uncertain significance 0.094 benign 해석 →
A393G Uncertain significance 0.060 benign 해석 →
A417T Uncertain significance 0.081 benign 해석 →
A421V Uncertain significance 0.098 benign 해석 →
A428T Uncertain significance 0.076 benign 해석 →
A451T Uncertain significance 0.070 benign 해석 →
A5E Uncertain significance 0.195 benign 해석 →
A5P Uncertain significance 0.087 benign 해석 →
A94G Uncertain significance 0.962 pathogenic 해석 →
A94V Uncertain significance 0.974 pathogenic 해석 →
C24Y Uncertain significance 0.983 pathogenic 해석 →
C7G Uncertain significance 0.071 benign 해석 →
C7W Likely benign 0.164 benign ✓ 해석 →
D104E Uncertain significance 0.934 pathogenic 해석 →
D129V Uncertain significance 0.999 pathogenic 해석 →
D243N Uncertain significance 0.903 pathogenic 해석 →
D245N Uncertain significance 0.100 benign 해석 →
D246Y Uncertain significance 0.133 benign 해석 →
D279N Uncertain significance 0.086 benign 해석 →
D279V Uncertain significance 0.094 benign 해석 →
D279Y Uncertain significance 0.104 benign 해석 →
D322E Uncertain significance 0.094 benign 해석 →
D322N Likely benign 0.082 benign ✓ 해석 →
D400V Uncertain significance 0.104 benign 해석 →
D405H Uncertain significance 0.104 benign 해석 →
D422G Uncertain significance 0.057 benign 해석 →
E130K Uncertain significance 0.997 pathogenic 해석 →
E208Q Uncertain significance 0.139 benign 해석 →
E256K Uncertain significance 0.238 benign 해석 →
E256Q Uncertain significance 0.124 benign 해석 →
E259K Uncertain significance 0.126 benign 해석 →
E284K Uncertain significance 0.078 benign 해석 →
E286D Uncertain significance 0.080 benign 해석 →
E339K Uncertain significance 0.126 benign 해석 →
E368K Uncertain significance 0.451 ambiguous 해석 →
E71G Uncertain significance 0.425 ambiguous 해석 →
E71Q Uncertain significance 0.394 ambiguous 해석 →
F238L Uncertain significance 0.989 pathogenic 해석 →
F241L Uncertain significance 0.996 pathogenic 해석 →
F252S Uncertain significance 0.976 pathogenic 해석 →
G159S Uncertain significance 0.909 pathogenic 해석 →
G196R Uncertain significance 0.969 pathogenic 해석 →
G197S Uncertain significance 0.877 pathogenic 해석 →
G201V Uncertain significance 0.781 pathogenic 해석 →
G210D Uncertain significance 0.376 ambiguous 해석 →
G210V Uncertain significance 0.751 pathogenic 해석 →
G283R Uncertain significance 0.089 benign 해석 →
G283W Uncertain significance 0.089 benign 해석 →
G296A Uncertain significance 0.073 benign 해석 →
G297A Uncertain significance 0.068 benign 해석 →
G297D Likely benign 0.073 benign ✓ 해석 →
G29A Uncertain significance 0.367 ambiguous 해석 →
G29R Uncertain significance 0.886 pathogenic 해석 →
G312S Uncertain significance 0.386 ambiguous 해석 →
G323R Uncertain significance 0.141 benign 해석 →
G343S Uncertain significance 0.307 benign 해석 →
G352V Uncertain significance 0.998 pathogenic 해석 →
G399E Uncertain significance 0.109 benign 해석 →
G399R Uncertain significance 0.122 benign 해석 →
G404E Uncertain significance 0.098 benign 해석 →
G404R Uncertain significance 0.119 benign 해석 →
G407E Uncertain significance 0.098 benign 해석 →
G407R Uncertain significance 0.141 benign 해석 →
G408V Uncertain significance 0.114 benign 해석 →
G427A Uncertain significance 0.059 benign 해석 →
G427R Uncertain significance 0.110 benign 해석 →
G431D Uncertain significance 0.552 ambiguous 해석 →
G431S Uncertain significance 0.271 benign 해석 →
G57D Uncertain significance 0.999 pathogenic 해석 →
G93R Uncertain significance 0.904 pathogenic 해석 →
H140Q Uncertain significance 1.000 pathogenic 해석 →
H180Y Uncertain significance 0.990 pathogenic 해석 →
H182Q Uncertain significance 1.000 pathogenic 해석 →
H270Q Uncertain significance 0.995 pathogenic 해석 →
H277P Uncertain significance 0.058 benign 해석 →
H333P Uncertain significance 0.376 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.