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

MTM1: AM vs ClinVar 일치도

406 변이
✓ 둘 다 병원성
63
✓ 둘 다 양성
18
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
1
— AM 미적재
324
AM ↔ ClinVar 비교 가능 변이 82건 중 81건 일치 / 1건 불일치 — 일치도 98.8%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A279G Likely pathogenic 0.779 pathogenic ✓ 해석 →
A287D Likely pathogenic 1.000 pathogenic ✓ 해석 →
C113* Pathogenic — 미적재 해석 →
D210G Conflicting classifications of pathogeni 0.461 ambiguous 해석 →
D380H Likely pathogenic 1.000 pathogenic ✓ 해석 →
D380V Pathogenic 1.000 pathogenic ✓ 해석 →
D394H Likely pathogenic 0.990 pathogenic ✓ 해석 →
D431N Uncertain significance 0.436 ambiguous 해석 →
D443A Likely pathogenic 0.996 pathogenic ✓ 해석 →
E104* Pathogenic — 미적재 해석 →
E135* Pathogenic — 미적재 해석 →
E135* Pathogenic — 미적재 해석 →
E157K Likely pathogenic 0.751 pathogenic ✓ 해석 →
E17* Pathogenic — 미적재 해석 →
E172* Pathogenic — 미적재 해석 →
E33* Likely pathogenic — 미적재 해석 →
E33* Pathogenic — 미적재 해석 →
E401* Likely pathogenic — 미적재 해석 →
E404D Likely pathogenic 0.985 pathogenic ✓ 해석 →
E404K Pathogenic 0.666 pathogenic ✓ 해석 →
E410* Pathogenic — 미적재 해석 →
E460* Pathogenic — 미적재 해석 →
E48* Pathogenic — 미적재 해석 →
E483* Pathogenic — 미적재 해석 →
E487* Pathogenic — 미적재 해석 →
E566* Likely pathogenic — 미적재 해석 →
E76* Pathogenic — 미적재 해석 →
F456S Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
F458V Likely pathogenic 0.986 pathogenic ✓ 해석 →
F478S Pathogenic 0.994 pathogenic ✓ 해석 →
G163* Likely pathogenic — 미적재 해석 →
G248V Likely pathogenic 0.989 pathogenic ✓ 해석 →
G294* Pathogenic — 미적재 해석 →
G378* Likely pathogenic — 미적재 해석 →
G378R Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
G378V Likely pathogenic 1.000 pathogenic ✓ 해석 →
G402A Pathogenic 0.947 pathogenic ✓ 해석 →
G402R Likely pathogenic 0.998 pathogenic ✓ 해석 →
G402V Pathogenic 0.993 pathogenic ✓ 해석 →
G415E Pathogenic/Likely pathogenic 0.999 pathogenic ✓ 해석 →
G476V Pathogenic 0.994 pathogenic ✓ 해석 →
H374D Pathogenic 0.999 pathogenic ✓ 해석 →
H469D Conflicting classifications of pathogeni 0.789 pathogenic 해석 →
H469R Conflicting classifications of pathogeni 0.853 pathogenic 해석 →
I264S Pathogenic 0.959 pathogenic ✓ 해석 →
I412V Conflicting classifications of pathogeni 0.095 benign 해석 →
I442N Likely pathogenic 0.961 pathogenic ✓ 해석 →
I502K Pathogenic/Likely pathogenic 0.967 pathogenic ✓ 해석 →
K114* Pathogenic — 미적재 해석 →
K255* Likely pathogenic — 미적재 해석 →
K269* Likely pathogenic — 미적재 해석 →
K325* Likely pathogenic — 미적재 해석 →
K516* Pathogenic — 미적재 해석 →
L109P Likely pathogenic 0.998 pathogenic ✓ 해석 →
L178S Conflicting classifications of pathogeni 0.961 pathogenic 해석 →
L194P Likely pathogenic 0.956 pathogenic ✓ 해석 →
L213F Conflicting classifications of pathogeni 0.864 pathogenic 해석 →
L228P Pathogenic 0.967 pathogenic ✓ 해석 →
L341* Likely pathogenic — 미적재 해석 →
L347* Pathogenic — 미적재 해석 →
L372P Likely pathogenic 0.992 pathogenic ✓ 해석 →
L463S Likely pathogenic 0.991 pathogenic ✓ 해석 →
L463W Likely pathogenic 0.984 pathogenic ✓ 해석 →
L70F Pathogenic 0.449 ambiguous 해석 →
L87P Pathogenic 0.994 pathogenic ✓ 해석 →
M1I Pathogenic 0.729 pathogenic ✓ 해석 →
M1R Pathogenic 0.770 pathogenic ✓ 해석 →
M1T Pathogenic 0.785 pathogenic ✓ 해석 →
N189S Pathogenic/Likely pathogenic 0.693 pathogenic ✓ 해석 →
N459I Pathogenic 0.983 pathogenic ✓ 해석 →
P179S Pathogenic 0.773 pathogenic ✓ 해석 →
P205L Pathogenic 0.981 pathogenic ✓ 해석 →
P226T Likely pathogenic 0.948 pathogenic ✓ 해석 →
P436L Likely pathogenic 0.992 pathogenic ✓ 해석 →
Q244* Pathogenic — 미적재 해석 →
Q461* Pathogenic — 미적재 해석 →
R130* Likely pathogenic — 미적재 해석 →
R184* Likely pathogenic — 미적재 해석 →
R184G Pathogenic 0.918 pathogenic ✓ 해석 →
R222* Pathogenic — 미적재 해석 →
R224* Pathogenic — 미적재 해석 →
R24* Pathogenic — 미적재 해석 →
R241C Pathogenic 0.971 pathogenic ✓ 해석 →
R253* Pathogenic — 미적재 해석 →
R280* Likely pathogenic — 미적재 해석 →
R29* Pathogenic — 미적재 해석 →
R37* Pathogenic — 미적재 해석 →
R421* Pathogenic — 미적재 해석 →
R421L Pathogenic/Likely pathogenic 0.995 pathogenic ✓ 해석 →
R421Q Pathogenic/Likely pathogenic 0.990 pathogenic ✓ 해석 →
R474* Pathogenic — 미적재 해석 →
R486* Pathogenic — 미적재 해석 →
R520* Pathogenic — 미적재 해석 →
R69C Pathogenic 0.573 pathogenic ✓ 해석 →
R69G Pathogenic 0.953 pathogenic ✓ 해석 →
S101G Conflicting classifications of pathogeni 0.684 pathogenic 해석 →
S243N Likely pathogenic 0.996 pathogenic ✓ 해석 →
S320P Pathogenic 0.999 pathogenic ✓ 해석 →
S370* Pathogenic — 미적재 해석 →
S387Y Pathogenic 0.996 pathogenic ✓ 해석 →
S593* Likely pathogenic — 미적재 해석 →
T186I Pathogenic/Likely pathogenic 0.843 pathogenic ✓ 해석 →
T197I Pathogenic 0.989 pathogenic ✓ 해석 →
T66I Pathogenic 0.996 pathogenic ✓ 해석 →
V204G Pathogenic 0.895 pathogenic ✓ 해석 →
V227M Pathogenic/Likely pathogenic 0.759 pathogenic ✓ 해석 →
V49F Pathogenic 0.684 pathogenic ✓ 해석 →
V49I Conflicting classifications of pathogeni 0.119 benign 해석 →
W164* Likely pathogenic — 미적재 해석 →
W183* Pathogenic — 미적재 해석 →
W183* Pathogenic — 미적재 해석 →
W230C Likely pathogenic 0.995 pathogenic ✓ 해석 →
W230C Likely pathogenic 0.995 pathogenic ✓ 해석 →
W230R Likely pathogenic 0.999 pathogenic ✓ 해석 →
W337* Likely pathogenic — 미적재 해석 →
W346* Likely pathogenic — 미적재 해석 →
W346R Likely pathogenic 1.000 pathogenic ✓ 해석 →
W379* Pathogenic — 미적재 해석 →
W379* Pathogenic — 미적재 해석 →
W411* Pathogenic — 미적재 해석 →
W411C Likely pathogenic 0.998 pathogenic ✓ 해석 →
W446* Pathogenic — 미적재 해석 →
W446* Pathogenic — 미적재 해석 →
W499R Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
W534* Likely pathogenic — 미적재 해석 →
W534S Likely pathogenic 0.999 pathogenic ✓ 해석 →
Y140* Pathogenic — 미적재 해석 →
Y140* Pathogenic — 미적재 해석 →
Y192C Likely pathogenic 0.352 ambiguous 해석 →
Y198* Pathogenic — 미적재 해석 →
Y198H Likely pathogenic 0.995 pathogenic ✓ 해석 →
Y198S Pathogenic 0.958 pathogenic ✓ 해석 →
Y260S Pathogenic 0.973 pathogenic ✓ 해석 →
Y397* Pathogenic — 미적재 해석 →
Y397C Pathogenic 0.563 ambiguous 해석 →
Y51* Pathogenic — 미적재 해석 →
Y537* Pathogenic — 미적재 해석 →
Y9* Pathogenic — 미적재 해석 →
A122S Uncertain significance 0.433 ambiguous 해석 →
A141P Uncertain significance 0.992 pathogenic 해석 →
A141V Conflicting classifications of pathogeni 0.477 ambiguous 해석 →
A2T Uncertain significance 0.382 ambiguous 해석 →
A2V Uncertain significance 0.612 pathogenic 해석 →
A300T Uncertain significance 0.100 benign 해석 →
A304T Uncertain significance 0.132 benign 해석 →
A304V Uncertain significance 0.197 benign 해석 →
A357P Uncertain significance 0.999 pathogenic 해석 →
A485V Benign 0.076 benign ✓ 해석 →
A577S Uncertain significance 0.074 benign 해석 →
A577T Conflicting classifications of pathogeni 0.069 benign 해석 →
A99T Uncertain significance 0.234 benign 해석 →
A99V Benign 0.271 benign ✓ 해석 →
C191S Uncertain significance 0.074 benign 해석 →
C195F Uncertain significance 0.983 pathogenic 해석 →
C482R Uncertain significance 0.937 pathogenic 해석 →
D162I Uncertain significance 0.436 ambiguous 해석 →
D210V Uncertain significance 0.412 ambiguous 해석 →
D211Y Uncertain significance 0.249 benign 해석 →
D257G Uncertain significance 0.996 pathogenic 해석 →
D25G Uncertain significance 0.094 benign 해석 →
D262A Uncertain significance 0.206 benign 해석 →
D262N Likely benign 0.120 benign ✓ 해석 →
D362H Uncertain significance 0.779 pathogenic 해석 →
D394G Uncertain significance 0.981 pathogenic 해석 →
D433N Uncertain significance 0.592 pathogenic 해석 →
D468G Uncertain significance 0.932 pathogenic 해석 →
D565N Uncertain significance 0.099 benign 해석 →
D78H Uncertain significance 0.264 benign 해석 →
D78V Uncertain significance 0.199 benign 해석 →
E156K Likely benign 0.087 benign ✓ 해석 →
E157Q Uncertain significance 0.439 ambiguous 해석 →
E234D Uncertain significance 0.119 benign 해석 →
E234Q Conflicting classifications of pathogeni 0.133 benign 해석 →
E305K Benign 0.364 ambiguous 해석 →
E305Q Uncertain significance 0.208 benign 해석 →
E410Q Uncertain significance 0.983 pathogenic 해석 →
E41G Uncertain significance 0.984 pathogenic 해석 →
E457K Uncertain significance 0.854 pathogenic 해석 →
E532D Uncertain significance 0.501 ambiguous 해석 →
E566G Uncertain significance 0.163 benign 해석 →
E566K Uncertain significance 0.153 benign 해석 →
F159L Uncertain significance 0.943 pathogenic 해석 →
F187S Uncertain significance 0.275 benign 해석 →
F475L Uncertain significance 0.996 pathogenic 해석 →
F480L Uncertain significance 0.741 pathogenic 해석 →
F509L Uncertain significance 0.928 pathogenic 해석 →
G127D Uncertain significance 0.848 pathogenic 해석 →
G177V Uncertain significance 0.610 pathogenic 해석 →
G248S Conflicting classifications of pathogeni 0.895 pathogenic 해석 →
H181Q Uncertain significance 0.076 benign 해석 →
H182Y Uncertain significance 0.076 benign 해석 →
H302R Uncertain significance 0.067 benign 해석 →
H312R Uncertain significance 0.630 pathogenic 해석 →
H315R Uncertain significance 0.998 pathogenic 해석 →
H416Q Uncertain significance 0.993 pathogenic 해석 →
H469N Uncertain significance 0.215 benign 해석 →
H469P Uncertain significance 0.987 pathogenic 해석 →
H598R Conflicting classifications of pathogeni 0.082 benign 해석 →
I185L Uncertain significance 0.117 benign 해석 →
I188L Uncertain significance 0.084 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.