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

IL6R: AM vs ClinVar 일치도

140 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
7
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
132
AM ↔ ClinVar 비교 가능 변이 8건 중 8건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C165S Pathogenic 0.974 pathogenic ✓ 해석 →
I279N no classifications from unflagged record 0.981 pathogenic 해석 →
A19T Uncertain significance 0.251 benign 해석 →
A323V Uncertain significance 0.081 benign 해석 →
A349G Uncertain significance 0.096 benign 해석 →
A349V Uncertain significance 0.092 benign 해석 →
A351E Uncertain significance 0.138 benign 해석 →
A351V Uncertain significance 0.095 benign 해석 →
A375G Uncertain significance 0.186 benign 해석 →
A383V Uncertain significance 0.109 benign 해석 →
A3S Uncertain significance 0.206 benign 해석 →
A66D Uncertain significance 0.101 benign 해석 →
D160A Uncertain significance 0.142 benign 해석 →
D160Y Uncertain significance 0.146 benign 해석 →
D240Y Uncertain significance 0.320 benign 해석 →
D272E Uncertain significance 0.160 benign 해석 →
D339G Uncertain significance 0.071 benign 해석 →
D340N Uncertain significance 0.072 benign 해석 →
D358A Benign/Likely benign 0.107 benign ✓ 해석 →
D358Y Uncertain significance 0.136 benign 해석 →
D41E Uncertain significance 0.140 benign 해석 →
E115D Uncertain significance 0.498 ambiguous 해석 →
E115K Uncertain significance 0.310 benign 해석 →
E115V Uncertain significance 0.553 ambiguous 해석 →
E170G Uncertain significance 0.076 benign 해석 →
E254K Uncertain significance 0.608 pathogenic 해석 →
E296K Uncertain significance 0.926 pathogenic 해석 →
F265L Uncertain significance 0.991 pathogenic 해석 →
F465Y Uncertain significance 0.321 benign 해석 →
G100S Uncertain significance 0.105 benign 해석 →
G17A Uncertain significance 0.078 benign 해석 →
G199R Uncertain significance 0.429 ambiguous 해석 →
G210D Uncertain significance 0.511 ambiguous 해석 →
G299R Uncertain significance 0.304 benign 해석 →
G377R Uncertain significance 0.963 pathogenic 해석 →
G411R Uncertain significance 0.298 benign 해석 →
H275L Uncertain significance 0.294 benign 해석 →
I189V Uncertain significance 0.080 benign 해석 →
I382L Uncertain significance 0.120 benign 해석 →
I382M Uncertain significance 0.114 benign 해석 →
K204E Uncertain significance 0.095 benign 해석 →
K263E Uncertain significance 0.131 benign 해석 →
K389R Uncertain significance 0.059 benign 해석 →
L127V Uncertain significance 0.089 benign 해석 →
L148F Uncertain significance 0.593 pathogenic 해석 →
L273H Uncertain significance 0.146 benign 해석 →
L273V Uncertain significance 0.100 benign 해석 →
L379F Likely benign 0.108 benign ✓ 해석 →
L379V Uncertain significance 0.091 benign 해석 →
L380F Uncertain significance 0.197 benign 해석 →
L397V Uncertain significance 0.084 benign 해석 →
L424F Uncertain significance 0.148 benign 해석 →
M192T Uncertain significance 0.365 ambiguous 해석 →
M192V Uncertain significance 0.077 benign 해석 →
M331L Uncertain significance 0.079 benign 해석 →
M331T Uncertain significance 0.050 benign 해석 →
N245S Uncertain significance 0.274 benign 해석 →
N55S Uncertain significance 0.081 benign 해석 →
P164L Uncertain significance 0.114 benign 해석 →
P16L Uncertain significance 0.339 benign 해석 →
P22L Uncertain significance 0.187 benign 해석 →
P231T Uncertain significance 0.404 ambiguous 해석 →
P241S Uncertain significance 0.819 pathogenic 해석 →
P26L Uncertain significance 0.158 benign 해석 →
P308L Uncertain significance 0.102 benign 해석 →
P321L Uncertain significance 0.060 benign 해석 →
P406L Uncertain significance 0.093 benign 해석 →
P431S Uncertain significance 0.111 benign 해석 →
P434S Uncertain significance 0.105 benign 해석 →
P48L Uncertain significance 0.140 benign 해석 →
P48Q Uncertain significance 0.215 benign 해석 →
P52L Uncertain significance 0.085 benign 해석 →
P65L Likely benign 0.084 benign ✓ 해석 →
Q118H Uncertain significance 0.153 benign 해석 →
Q239H Uncertain significance 0.292 benign 해석 →
Q300E Uncertain significance 0.084 benign 해석 →
Q357R Uncertain significance 0.082 benign 해석 →
R101C Uncertain significance 0.149 benign 해석 →
R101H Likely benign 0.062 benign ✓ 해석 →
R101L Uncertain significance 0.082 benign 해석 →
R123Q Uncertain significance 0.103 benign 해석 →
R123W Uncertain significance 0.296 benign 해석 →
R137W Uncertain significance 0.117 benign 해석 →
R258Q Uncertain significance 0.199 benign 해석 →
R258W Uncertain significance 0.566 pathogenic 해석 →
R261W Uncertain significance 0.115 benign 해석 →
R293H Uncertain significance 0.513 ambiguous 해석 →
R346G Uncertain significance 0.066 benign 해석 →
R395Q Uncertain significance 0.067 benign 해석 →
R395W Uncertain significance 0.097 benign 해석 →
R451T Likely benign 0.090 benign ✓ 해석 →
R454W Uncertain significance 0.108 benign 해석 →
R80M Uncertain significance 0.187 benign 해석 →
R98Q Conflicting classifications of pathogeni 0.069 benign 해석 →
R98W Uncertain significance 0.106 benign 해석 →
S141T Uncertain significance 0.201 benign 해석 →
S197R Uncertain significance 0.325 benign 해석 →
S284I Uncertain significance 0.153 benign 해석 →
S353N Uncertain significance 0.148 benign 해석 →
S433Y Uncertain significance 0.209 benign 해석 →
S444N Uncertain significance 0.087 benign 해석 →
S455R Uncertain significance 0.331 benign 해석 →
S69P Uncertain significance 0.068 benign 해석 →
S72N Uncertain significance 0.105 benign 해석 →
S85L Uncertain significance 0.204 benign 해석 →
S91F Uncertain significance 0.703 pathogenic 해석 →
S95* Uncertain significance — 미적재 해석 →
T143M Uncertain significance 0.112 benign 해석 →
T205N Uncertain significance 0.091 benign 해석 →
T313M Uncertain significance 0.088 benign 해석 →
T316I Uncertain significance 0.155 benign 해석 →
T36A Uncertain significance 0.090 benign 해석 →
T391M Uncertain significance 0.093 benign 해석 →
T421I Likely benign 0.142 benign ✓ 해석 →
T421P Uncertain significance 0.066 benign 해석 →
V106G Uncertain significance 0.302 benign 해석 →
V106M Uncertain significance 0.144 benign 해석 →
V112I Uncertain significance 0.103 benign 해석 →
V150E Uncertain significance 0.847 pathogenic 해석 →
V194I Uncertain significance 0.111 benign 해석 →
V227M Uncertain significance 0.144 benign 해석 →
V270I Uncertain significance 0.121 benign 해석 →
V278I Uncertain significance 0.068 benign 해석 →
V289M Uncertain significance 0.160 benign 해석 →
V34L Uncertain significance 0.177 benign 해석 →
V34M Uncertain significance 0.152 benign 해석 →
V362I Uncertain significance 0.083 benign 해석 →
V385I Benign/Likely benign 0.072 benign ✓ 해석 →
V43M Uncertain significance 0.362 ambiguous 해석 →
V4F Uncertain significance 0.148 benign 해석 →
V58F Uncertain significance 0.163 benign 해석 →
V61M Uncertain significance 0.132 benign 해석 →
W244C Uncertain significance 0.996 pathogenic 해석 →
Y167H Uncertain significance 0.681 pathogenic 해석 →
Y464C Uncertain significance 0.668 pathogenic 해석 →
Y94H Uncertain significance 0.921 pathogenic 해석 →
A31V - 0.121 benign 해석 →
A333P - 0.075 benign 해석 →
D358V - 0.126 benign 해석 →
S42R - 0.380 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.