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

BRAF: AM vs ClinVar 일치도

500 변이
✓ 둘 다 병원성
117
✓ 둘 다 양성
9
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
373
AM ↔ ClinVar 비교 가능 변이 127건 중 126건 일치 / 1건 불일치 — 일치도 99.2%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A246P Pathogenic 0.997 pathogenic ✓ 해석 →
A366P Likely pathogenic 0.994 pathogenic ✓ 해석 →
A481E Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
A481K Likely pathogenic 1.000 pathogenic ✓ 해석 →
A712D Pathogenic/Likely pathogenic 0.970 pathogenic ✓ 해석 →
A712T Conflicting classifications of pathogeni 0.429 ambiguous 해석 →
C532Y Likely pathogenic 1.000 pathogenic ✓ 해석 →
D361V Likely pathogenic 0.975 pathogenic ✓ 해석 →
D565E Pathogenic/Likely pathogenic 0.967 pathogenic ✓ 해석 →
D565E Likely pathogenic 0.967 pathogenic ✓ 해석 →
D594E Likely pathogenic 1.000 pathogenic ✓ 해석 →
D594G Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
D594N Likely pathogenic 0.999 pathogenic ✓ 해석 →
D594N Likely pathogenic 0.999 pathogenic ✓ 해석 →
D594V Pathogenic 1.000 pathogenic ✓ 해석 →
D638E Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
D638E Pathogenic 0.999 pathogenic ✓ 해석 →
E275K Pathogenic/Likely pathogenic 0.947 pathogenic ✓ 해석 →
E501A Pathogenic 0.999 pathogenic ✓ 해석 →
E501G Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
E501K Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
E501Q Likely pathogenic 0.999 pathogenic ✓ 해석 →
E501V Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
F247C Conflicting classifications of pathogeni 0.998 pathogenic 해석 →
F247L Pathogenic 1.000 pathogenic ✓ 해석 →
F247L Pathogenic 1.000 pathogenic ✓ 해석 →
F247L Pathogenic 1.000 pathogenic ✓ 해석 →
F247S Likely pathogenic 0.999 pathogenic ✓ 해석 →
F247V Likely pathogenic 0.995 pathogenic ✓ 해석 →
F468C Likely pathogenic 1.000 pathogenic ✓ 해석 →
F468L Likely pathogenic 1.000 pathogenic ✓ 해석 →
F468S Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
F498Y Likely pathogenic 0.984 pathogenic ✓ 해석 →
F583L Likely pathogenic 1.000 pathogenic ✓ 해석 →
F595L Pathogenic 1.000 pathogenic ✓ 해석 →
F595L Pathogenic 1.000 pathogenic ✓ 해석 →
F595L Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G265A Likely pathogenic 0.964 pathogenic ✓ 해석 →
G265R Likely pathogenic 0.985 pathogenic ✓ 해석 →
G464A Likely pathogenic 0.999 pathogenic ✓ 해석 →
G464E Pathogenic 1.000 pathogenic ✓ 해석 →
G464R Pathogenic 1.000 pathogenic ✓ 해석 →
G464R Pathogenic 1.000 pathogenic ✓ 해석 →
G464V Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G466E Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G466R Pathogenic 1.000 pathogenic ✓ 해석 →
G466R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G466V Pathogenic 1.000 pathogenic ✓ 해석 →
G469A Pathogenic 0.998 pathogenic ✓ 해석 →
G469E Pathogenic 1.000 pathogenic ✓ 해석 →
G469R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G469R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G469V Pathogenic 1.000 pathogenic ✓ 해석 →
G534R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G596C Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
G596V Pathogenic 1.000 pathogenic ✓ 해석 →
G759E Conflicting classifications of pathogeni 0.414 ambiguous 해석 →
H574Q Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
H574Q Pathogenic 1.000 pathogenic ✓ 해석 →
H574Y Pathogenic 0.999 pathogenic ✓ 해석 →
I463L Likely pathogenic 0.931 pathogenic ✓ 해석 →
I463S Pathogenic 0.998 pathogenic ✓ 해석 →
I463V Conflicting classifications of pathogeni 0.439 ambiguous 해석 →
K483I Likely pathogenic 1.000 pathogenic ✓ 해석 →
K483N Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
K483Q Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
K483T Pathogenic 0.999 pathogenic ✓ 해석 →
K499E Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
K499N Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
K499N Pathogenic 0.999 pathogenic ✓ 해석 →
K601E Pathogenic 0.999 pathogenic ✓ 해석 →
K601I Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
K601Q Pathogenic 0.993 pathogenic ✓ 해석 →
K601T Pathogenic 0.996 pathogenic ✓ 해석 →
L245F Pathogenic 0.994 pathogenic ✓ 해석 →
L245F Pathogenic 0.994 pathogenic ✓ 해석 →
L485F Pathogenic 0.998 pathogenic ✓ 해석 →
L485F Pathogenic 0.998 pathogenic ✓ 해석 →
L485S Likely pathogenic 1.000 pathogenic ✓ 해석 →
L485W Pathogenic 1.000 pathogenic ✓ 해석 →
L505F Pathogenic 0.997 pathogenic ✓ 해석 →
L525P Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
L525Q Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
L525R Pathogenic 0.993 pathogenic ✓ 해석 →
L567V Conflicting classifications of pathogeni 0.990 pathogenic 해석 →
L584F Conflicting classifications of pathogeni 0.991 pathogenic 해석 →
L597R Pathogenic 1.000 pathogenic ✓ 해석 →
L597V Pathogenic 0.994 pathogenic ✓ 해석 →
L711P Likely pathogenic 0.999 pathogenic ✓ 해석 →
M564V Conflicting classifications of pathogeni 0.841 pathogenic 해석 →
N236K Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
N236K Likely pathogenic 0.999 pathogenic ✓ 해석 →
N580D Pathogenic 0.974 pathogenic ✓ 해석 →
N581D Pathogenic 0.987 pathogenic ✓ 해석 →
N581H Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
N581K Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
N581S Likely pathogenic 0.679 pathogenic ✓ 해석 →
P367A Likely pathogenic 0.996 pathogenic ✓ 해석 →
P731S Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
Q257K Pathogenic/Likely pathogenic 0.992 pathogenic ✓ 해석 →
Q257R Pathogenic 0.983 pathogenic ✓ 해석 →
Q262K Pathogenic/Likely pathogenic 0.984 pathogenic ✓ 해석 →
Q262P Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
Q262R Pathogenic/Likely pathogenic 0.980 pathogenic ✓ 해석 →
Q636* Pathogenic — 미적재 해석 →
Q709E Pathogenic 0.327 benign ⚠ 해석 →
Q709R Pathogenic 0.756 pathogenic ✓ 해석 →
R252P Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
R260H Conflicting classifications of pathogeni 0.945 pathogenic 해석 →
R426T Pathogenic 0.810 pathogenic ✓ 해석 →
R462I Pathogenic 0.975 pathogenic ✓ 해석 →
S215F Likely pathogenic 0.968 pathogenic ✓ 해석 →
S467A Pathogenic 0.893 pathogenic ✓ 해석 →
S607F Uncertain significance 0.956 pathogenic 해석 →
T241A Pathogenic 0.995 pathogenic ✓ 해석 →
T241K Pathogenic 0.999 pathogenic ✓ 해석 →
T241M Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
T241P Pathogenic/Likely pathogenic 0.997 pathogenic ✓ 해석 →
T241R Pathogenic 0.998 pathogenic ✓ 해석 →
T244P Pathogenic 0.919 pathogenic ✓ 해석 →
T470P Likely pathogenic 0.994 pathogenic ✓ 해석 →
T470R Likely pathogenic 0.991 pathogenic ✓ 해석 →
T589P Likely pathogenic 0.988 pathogenic ✓ 해석 →
T599I Pathogenic 0.999 pathogenic ✓ 해석 →
T599R Pathogenic 0.996 pathogenic ✓ 해석 →
V276L Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
V471F Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
V471I Likely pathogenic 0.931 pathogenic ✓ 해석 →
V487G Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
V600E Conflicting classifications of pathogeni 0.993 pathogenic 해석 →
V600G Pathogenic 0.977 pathogenic ✓ 해석 →
V600L Pathogenic/Likely pathogenic 0.956 pathogenic ✓ 해석 →
V600L Likely pathogenic 0.956 pathogenic ✓ 해석 →
V600M Likely pathogenic 0.888 pathogenic ✓ 해석 →
W531C Pathogenic 1.000 pathogenic ✓ 해석 →
W531C Pathogenic 1.000 pathogenic ✓ 해석 →
W531L Likely pathogenic 0.991 pathogenic ✓ 해석 →
W531R Pathogenic 1.000 pathogenic ✓ 해석 →
W531R Pathogenic 1.000 pathogenic ✓ 해석 →
W531S Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
*712C Uncertain significance — 미적재 해석 →
*767W Uncertain significance — 미적재 해석 →
A115T Uncertain significance 0.065 benign 해석 →
A12V Uncertain significance 0.116 benign 해석 →
A145S Likely benign 0.058 benign ✓ 해석 →
A171T Uncertain significance 0.830 pathogenic 해석 →
A17P Uncertain significance 0.092 benign 해석 →
A246G Uncertain significance 0.937 pathogenic 해석 →
A27G Uncertain significance 0.066 benign 해석 →
A27T Uncertain significance 0.084 benign 해석 →
A27V Uncertain significance 0.102 benign 해석 →
A29T Uncertain significance 0.091 benign 해석 →
A305T Uncertain significance 0.061 benign 해석 →
A305V Conflicting classifications of pathogeni 0.071 benign 해석 →
A31G Likely benign 0.054 benign ✓ 해석 →
A31T Uncertain significance 0.091 benign 해석 →
A31V Uncertain significance 0.107 benign 해석 →
A320T Uncertain significance 0.060 benign 해석 →
A322T Uncertain significance 0.058 benign 해석 →
A33P Uncertain significance 0.103 benign 해석 →
A33V Uncertain significance 0.109 benign 해석 →
A34G Uncertain significance 0.072 benign 해석 →
A34V Likely benign 0.107 benign ✓ 해석 →
A35D Uncertain significance 0.219 benign 해석 →
A35T Uncertain significance 0.088 benign 해석 →
A38E Uncertain significance 0.220 benign 해석 →
A38P Uncertain significance 0.103 benign 해석 →
A38S Uncertain significance 0.077 benign 해석 →
A38V Uncertain significance 0.101 benign 해석 →
A415G Uncertain significance 0.083 benign 해석 →
A42S Uncertain significance 0.099 benign 해석 →
A42V Uncertain significance 0.186 benign 해석 →
A481T Uncertain significance 0.999 pathogenic 해석 →
A497T Uncertain significance 0.993 pathogenic 해석 →
A561S Uncertain significance 0.331 benign 해석 →
A621S Uncertain significance 0.369 ambiguous 해석 →
A63T Uncertain significance 0.227 benign 해석 →
A712S Uncertain significance 0.163 benign 해석 →
A712V Uncertain significance 0.632 pathogenic 해석 →
A728T Uncertain significance 0.399 ambiguous 해석 →
A736T Uncertain significance 0.570 pathogenic 해석 →
A762V Uncertain significance 0.103 benign 해석 →
A81V Uncertain significance 0.849 pathogenic 해석 →
A91G Uncertain significance 0.253 benign 해석 →
A91S Uncertain significance 0.103 benign 해석 →
A91V Uncertain significance 0.213 benign 해석 →
C173R Uncertain significance 0.691 pathogenic 해석 →
C173Y Uncertain significance 0.468 ambiguous 해석 →
C685S Uncertain significance 0.633 pathogenic 해석 →
C696Y Uncertain significance 0.998 pathogenic 해석 →
D143N Uncertain significance 0.145 benign 해석 →
D22E Uncertain significance 0.325 benign 해석 →
D22N Benign 0.425 ambiguous 해석 →
D22V Uncertain significance 0.709 pathogenic 해석 →
D22Y Uncertain significance 0.719 pathogenic 해석 →
D324G Uncertain significance 0.084 benign 해석 →
D352E Uncertain significance 0.194 benign 해석 →
D352G Uncertain significance 0.579 pathogenic 해석 →
D361N Uncertain significance 0.934 pathogenic 해석 →
D381N Uncertain significance 0.177 benign 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.