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

PTPN22: AM vs ClinVar 일치도

106 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
8
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
98
AM ↔ ClinVar 비교 가능 변이 8건 중 8건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A434E Uncertain significance 0.133 benign 해석 →
A512D Uncertain significance 0.103 benign 해석 →
C139Y Uncertain significance 0.966 pathogenic 해석 →
C214Y Uncertain significance 0.119 benign 해석 →
C238Y Uncertain significance 0.961 pathogenic 해석 →
D195Y Uncertain significance 0.941 pathogenic 해석 →
D197G Uncertain significance 0.454 ambiguous 해석 →
D218N Uncertain significance 0.098 benign 해석 →
D41N Uncertain significance 0.122 benign 해석 →
D79A Uncertain significance 0.244 benign 해석 →
D79N Uncertain significance 0.143 benign 해석 →
E207D Uncertain significance 0.252 benign 해석 →
E360D Uncertain significance 0.102 benign 해석 →
E360K Uncertain significance 0.077 benign 해석 →
E633K Uncertain significance 0.091 benign 해석 →
E719K Uncertain significance 0.072 benign 해석 →
E72K Uncertain significance 0.122 benign 해석 →
F380L Uncertain significance 0.416 ambiguous 해석 →
F481L Likely benign 0.202 benign ✓ 해석 →
F562V Uncertain significance 0.075 benign 해석 →
F665S Likely benign 0.065 benign ✓ 해석 →
F89V Uncertain significance 0.687 pathogenic 해석 →
H189R Uncertain significance 0.825 pathogenic 해석 →
H370N Conflicting classifications of pathogeni 0.099 benign 해석 →
H517N Uncertain significance 0.068 benign 해석 →
H518R Uncertain significance 0.060 benign 해석 →
H687L Uncertain significance 0.075 benign 해석 →
I171L Uncertain significance 0.222 benign 해석 →
I202V Uncertain significance 0.069 benign 해석 →
I240V Uncertain significance 0.071 benign 해석 →
I529V Uncertain significance 0.074 benign 해석 →
K166Q Uncertain significance 0.264 benign 해석 →
K411N Uncertain significance 0.590 pathogenic 해석 →
K664I Uncertain significance 0.093 benign 해석 →
K750N Conflicting classifications of pathogeni 0.783 pathogenic 해석 →
L287S Uncertain significance 0.185 benign 해석 →
L31M Uncertain significance 0.341 ambiguous 해석 →
L31V Uncertain significance 0.408 ambiguous 해석 →
L686P Uncertain significance 0.066 benign 해석 →
M245I Uncertain significance 0.590 pathogenic 해석 →
M758V Uncertain significance 0.064 benign 해석 →
N284K Uncertain significance 0.112 benign 해석 →
N340H Uncertain significance 0.084 benign 해석 →
P194L Uncertain significance 0.797 pathogenic 해석 →
P199S Uncertain significance 0.956 pathogenic 해석 →
P270S Uncertain significance 0.297 benign 해석 →
P326L Uncertain significance 0.077 benign 해석 →
P329T Uncertain significance 0.102 benign 해석 →
P451A Uncertain significance 0.146 benign 해석 →
P614A Uncertain significance 0.184 benign 해석 →
P614L Uncertain significance 0.224 benign 해석 →
P615L Uncertain significance 0.319 benign 해석 →
P694Q Uncertain significance 0.352 ambiguous 해석 →
P694R Uncertain significance 0.364 ambiguous 해석 →
Q15P Uncertain significance 0.255 benign 해석 →
Q456E Likely benign 0.106 benign ✓ 해석 →
R141H Uncertain significance 0.164 benign 해석 →
R165T Uncertain significance 0.130 benign 해석 →
R183Q Uncertain significance 0.157 benign 해석 →
R233S Uncertain significance 0.996 pathogenic 해석 →
R263Q Benign 0.046 benign ✓ 해석 →
R263W Uncertain significance 0.161 benign 해석 →
R266W Uncertain significance 0.862 pathogenic 해석 →
R33S Uncertain significance 0.377 ambiguous 해석 →
R510H Uncertain significance 0.068 benign 해석 →
R672G Uncertain significance 0.177 benign 해석 →
R680* Uncertain significance — 미적재 해석 →
R690H Uncertain significance 0.079 benign 해석 →
R70W Uncertain significance 0.340 ambiguous 해석 →
R756Q Uncertain significance 0.082 benign 해석 →
S107P Likely benign 0.053 benign ✓ 해석 →
S200P Uncertain significance 0.227 benign 해석 →
S362N Uncertain significance 0.071 benign 해석 →
S377F Uncertain significance 0.163 benign 해석 →
S470P Uncertain significance 0.070 benign 해석 →
S474P Uncertain significance 0.079 benign 해석 →
S505C Benign 0.098 benign ✓ 해석 →
S520C Uncertain significance 0.076 benign 해석 →
S543G Likely benign 0.069 benign ✓ 해석 →
S546C Uncertain significance 0.068 benign 해석 →
S547P Uncertain significance 0.087 benign 해석 →
S624L Uncertain significance 0.716 pathogenic 해석 →
S641P Uncertain significance 0.068 benign 해석 →
S676T Uncertain significance 0.090 benign 해석 →
S691P Uncertain significance 0.115 benign 해석 →
S692C Benign 0.105 benign ✓ 해석 →
S704A Uncertain significance 0.256 benign 해석 →
S724T Uncertain significance 0.073 benign 해석 →
S793L Uncertain significance 0.113 benign 해석 →
T275K Uncertain significance 0.728 pathogenic 해석 →
T728I Uncertain significance 0.117 benign 해석 →
V525I Uncertain significance 0.075 benign 해석 →
W244R Uncertain significance 0.553 ambiguous 해석 →
Y471N Uncertain significance 0.079 benign 해석 →
Y528C Uncertain significance 0.059 benign 해석 →
E264* - — 미적재 해석 →
I609L - 0.070 benign 해석 →
M265V - 0.693 pathogenic 해석 →
N26S - 0.060 benign 해석 →
P430H - 0.109 benign 해석 →
P622R - 0.612 pathogenic 해석 →
R791S - 0.937 pathogenic 해석 →
S228C - 0.915 pathogenic 해석 →
W620* - — 미적재 해석 →
W620G - 0.118 benign 해석 →
W620R - 0.020 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.