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

SLCO1B3: AM vs ClinVar 일치도

160 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
12
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
1
— AM 미적재
147
AM ↔ ClinVar 비교 가능 변이 13건 중 12건 일치 / 1건 불일치 — 일치도 92.3%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A200P Uncertain significance 0.892 pathogenic 해석 →
A33T Uncertain significance 0.328 benign 해석 →
A539P Uncertain significance 0.478 ambiguous 해석 →
A571G Uncertain significance 0.209 benign 해석 →
A609T Uncertain significance 0.061 benign 해석 →
C162Y Uncertain significance 0.247 benign 해석 →
C430Y Uncertain significance 0.974 pathogenic 해석 →
C474S Uncertain significance 0.991 pathogenic 해석 →
C489R Uncertain significance 0.989 pathogenic 해석 →
C599R Uncertain significance 0.986 pathogenic 해석 →
D161N Uncertain significance 0.079 benign 해석 →
D198N Uncertain significance 0.551 ambiguous 해석 →
D241H Uncertain significance 0.330 benign 해석 →
D241V Uncertain significance 0.413 ambiguous 해석 →
D2N Uncertain significance 0.092 benign 해석 →
D304V Uncertain significance 0.085 benign 해석 →
D443G Uncertain significance 0.200 benign 해석 →
D60N Uncertain significance 0.097 benign 해석 →
D697G Uncertain significance 0.073 benign 해석 →
E156A Uncertain significance 0.096 benign 해석 →
E431K Uncertain significance 0.097 benign 해석 →
F268C Uncertain significance 0.082 benign 해석 →
F27C Uncertain significance 0.533 ambiguous 해석 →
F325I Uncertain significance 0.179 benign 해석 →
F352L Uncertain significance 0.736 pathogenic 해석 →
F36L Benign/Likely benign 0.350 ambiguous 해석 →
F400L Uncertain significance 0.557 ambiguous 해석 →
F421S Uncertain significance 0.202 benign 해석 →
F574L Uncertain significance 0.704 pathogenic 해석 →
F59S Uncertain significance 0.965 pathogenic 해석 →
G100S Uncertain significance 0.471 ambiguous 해석 →
G184R Uncertain significance 0.971 pathogenic 해석 →
G216R Uncertain significance 0.792 pathogenic 해석 →
G216V Uncertain significance 0.282 benign 해석 →
G238A Uncertain significance 0.321 benign 해석 →
G238R Uncertain significance 0.536 ambiguous 해석 →
G256A Benign 0.813 pathogenic ⚠ 해석 →
G324V Uncertain significance 0.118 benign 해석 →
G368S Uncertain significance 0.122 benign 해석 →
G394R Uncertain significance 0.960 pathogenic 해석 →
G406E Uncertain significance 0.321 benign 해석 →
G437S Uncertain significance 0.577 pathogenic 해석 →
G44S Uncertain significance 0.087 benign 해석 →
G478E Uncertain significance 0.275 benign 해석 →
G478R Uncertain significance 0.254 benign 해석 →
G494R Uncertain significance 0.157 benign 해석 →
G552S Likely benign 0.081 benign ✓ 해석 →
G584R Uncertain significance 0.960 pathogenic 해석 →
G88V Uncertain significance 0.734 pathogenic 해석 →
G98R Uncertain significance 0.962 pathogenic 해석 →
H169Y Likely benign 0.058 benign ✓ 해석 →
H4R Benign/Likely benign 0.065 benign ✓ 해석 →
H520P Uncertain significance 0.178 benign 해석 →
I157M Uncertain significance 0.061 benign 해석 →
I196T Uncertain significance 0.512 ambiguous 해석 →
I215M Uncertain significance 0.087 benign 해석 →
I247K Uncertain significance 0.904 pathogenic 해석 →
I381V Uncertain significance 0.088 benign 해석 →
I383V Uncertain significance 0.108 benign 해석 →
I417M Uncertain significance 0.088 benign 해석 →
I47F Uncertain significance 0.133 benign 해석 →
I50V Uncertain significance 0.083 benign 해석 →
I52V Uncertain significance 0.091 benign 해석 →
I562T Uncertain significance 0.108 benign 해석 →
I615V Uncertain significance 0.092 benign 해석 →
I61M Uncertain significance 0.127 benign 해석 →
I641T Uncertain significance 0.075 benign 해석 →
K28T Uncertain significance 0.209 benign 해석 →
K330E Uncertain significance 0.317 benign 해석 →
K398I Uncertain significance 0.806 pathogenic 해석 →
K409E Uncertain significance 0.306 benign 해석 →
K409R Uncertain significance 0.086 benign 해석 →
K49N Uncertain significance 0.893 pathogenic 해석 →
K648R Uncertain significance 0.075 benign 해석 →
K664N Uncertain significance 0.128 benign 해석 →
K9T Uncertain significance 0.088 benign 해석 →
L226M Uncertain significance 0.073 benign 해석 →
L226V Benign/Likely benign 0.100 benign ✓ 해석 →
L260I Uncertain significance 0.149 benign 해석 →
L333F Uncertain significance 0.088 benign 해석 →
L333I Uncertain significance 0.093 benign 해석 →
L346F Uncertain significance 0.157 benign 해석 →
L402S Uncertain significance 0.838 pathogenic 해석 →
L420V Likely benign 0.076 benign ✓ 해석 →
L438P Uncertain significance 0.926 pathogenic 해석 →
L456F Uncertain significance 0.074 benign 해석 →
L628F Uncertain significance 0.152 benign 해석 →
L674I Uncertain significance 0.075 benign 해석 →
M170T Uncertain significance 0.104 benign 해석 →
M179I Uncertain significance 0.284 benign 해석 →
M233I Benign 0.168 benign ✓ 해석 →
M233L Uncertain significance 0.064 benign 해석 →
M48T Uncertain significance 0.433 ambiguous 해석 →
M572V Likely benign 0.089 benign ✓ 해석 →
M577K Uncertain significance 0.914 pathogenic 해석 →
M647V Uncertain significance 0.088 benign 해석 →
M666I Uncertain significance 0.128 benign 해석 →
M666T Uncertain significance 0.059 benign 해석 →
N145S Conflicting classifications of pathogeni 0.062 benign 해석 →
N151S Uncertain significance 0.059 benign 해석 →
N284S Uncertain significance 0.068 benign 해석 →
N335S Uncertain significance 0.169 benign 해석 →
N375H Uncertain significance 0.331 benign 해석 →
N445S Uncertain significance 0.081 benign 해석 →
N528S Uncertain significance 0.067 benign 해석 →
N661S Uncertain significance 0.071 benign 해석 →
N675S Uncertain significance 0.072 benign 해석 →
N702S Uncertain significance 0.073 benign 해석 →
P249S Uncertain significance 0.160 benign 해석 →
P384T Uncertain significance 0.498 ambiguous 해석 →
P455A Uncertain significance 0.148 benign 해석 →
P455R Uncertain significance 0.224 benign 해석 →
P682H Uncertain significance 0.115 benign 해석 →
Q422H Likely benign 0.152 benign ✓ 해석 →
R181C Uncertain significance 0.431 ambiguous 해석 →
R181H Conflicting classifications of pathogeni 0.412 ambiguous 해석 →
R23C Conflicting classifications of pathogeni 0.071 benign 해석 →
R253C Uncertain significance 0.603 pathogenic 해석 →
R253H Uncertain significance 0.276 benign 해석 →
R663G Uncertain significance 0.063 benign 해석 →
S112A Benign 0.038 benign ✓ 해석 →
S112Y Conflicting classifications of pathogeni 0.762 pathogenic 해석 →
S135L Uncertain significance 0.077 benign 해석 →
S138I Uncertain significance 0.095 benign 해석 →
S149P Uncertain significance 0.061 benign 해석 →
S166F Uncertain significance 0.141 benign 해석 →
S331G Uncertain significance 0.072 benign 해석 →
S415L Uncertain significance 0.160 benign 해석 →
S63P Uncertain significance 0.637 pathogenic 해석 →
S659L Likely benign 0.074 benign ✓ 해석 →
S89Y Uncertain significance 0.310 benign 해석 →
T106A Uncertain significance 0.063 benign 해석 →
T127S Uncertain significance 0.073 benign 해석 →
T147A Benign/Likely benign 0.077 benign ✓ 해석 →
T186A Uncertain significance 0.156 benign 해석 →
T186N Uncertain significance 0.666 pathogenic 해석 →
T244S Uncertain significance 0.066 benign 해석 →
T319S Uncertain significance 0.081 benign 해석 →
T385M Uncertain significance 0.105 benign 해석 →
T414I Likely benign 0.276 benign ✓ 해석 →
T414N Uncertain significance 0.325 benign 해석 →
T550A Uncertain significance 0.075 benign 해석 →
T581A Uncertain significance 0.073 benign 해석 →
V235M Uncertain significance 0.567 pathogenic 해석 →
V255F Uncertain significance 0.843 pathogenic 해석 →
V255L Uncertain significance 0.786 pathogenic 해석 →
V349L Uncertain significance 0.180 benign 해석 →
V560A Conflicting classifications of pathogeni 0.391 ambiguous 해석 →
V578L Uncertain significance 0.160 benign 해석 →
V619I Uncertain significance 0.065 benign 해석 →
V681I Uncertain significance 0.078 benign 해석 →
V80L Uncertain significance 0.193 benign 해석 →
Y120H Uncertain significance 0.102 benign 해석 →
Y173C Uncertain significance 0.096 benign 해석 →
Y425C Uncertain significance 0.145 benign 해석 →
Y502C Uncertain significance 0.234 benign 해석 →
Y537C Uncertain significance 0.379 ambiguous 해석 →
Y625C Uncertain significance 0.419 ambiguous 해석 →
G227V - 0.424 ambiguous 해석 →
N130I - 0.073 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.