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

EPHA4: AM vs ClinVar 일치도

160 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
4
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
155
AM ↔ ClinVar 비교 가능 변이 5건 중 5건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A748T Likely pathogenic 0.992 pathogenic ✓ 해석 →
*987S Uncertain significance — 미적재 해석 →
A221S Uncertain significance 0.077 benign 해석 →
A283T Uncertain significance 0.153 benign 해석 →
A304D Uncertain significance 0.697 pathogenic 해석 →
A304V Uncertain significance 0.473 ambiguous 해석 →
A321T Uncertain significance 0.095 benign 해석 →
A371D Uncertain significance 0.129 benign 해석 →
A749S Uncertain significance 0.639 pathogenic 해석 →
A749T Uncertain significance 0.981 pathogenic 해석 →
A777G Uncertain significance 0.231 benign 해석 →
A792V Uncertain significance 0.991 pathogenic 해석 →
A804G Uncertain significance 0.349 ambiguous 해석 →
A852V Uncertain significance 0.155 benign 해석 →
A922V Uncertain significance 0.117 benign 해석 →
C17S Uncertain significance 0.079 benign 해석 →
C369R Uncertain significance 0.992 pathogenic 해석 →
C649Y Uncertain significance 0.114 benign 해석 →
D130H Uncertain significance 0.270 benign 해석 →
D172E Uncertain significance 0.294 benign 해석 →
D319N Uncertain significance 0.965 pathogenic 해석 →
D373E Uncertain significance 0.116 benign 해석 →
D402G Uncertain significance 0.392 ambiguous 해석 →
D427N Uncertain significance 0.091 benign 해석 →
D746G Uncertain significance 0.999 pathogenic 해석 →
D859G Uncertain significance 0.653 pathogenic 해석 →
D867N Uncertain significance 0.108 benign 해석 →
E238D Uncertain significance 0.348 ambiguous 해석 →
E341K Uncertain significance 0.588 pathogenic 해석 →
F871Y Uncertain significance 0.806 pathogenic 해석 →
F932L Uncertain significance 0.959 pathogenic 해석 →
G22D Uncertain significance 0.108 benign 해석 →
G248R Uncertain significance 0.924 pathogenic 해석 →
G271R Uncertain significance 0.197 benign 해석 →
G383E Benign 0.206 benign ✓ 해석 →
G392V Uncertain significance 0.374 ambiguous 해석 →
G41A Conflicting classifications of pathogeni 0.400 ambiguous 해석 →
G543A Uncertain significance 0.137 benign 해석 →
G766V Uncertain significance 0.995 pathogenic 해석 →
G840D Uncertain significance 0.766 pathogenic 해석 →
G93V Uncertain significance 0.230 benign 해석 →
G981V Uncertain significance 0.160 benign 해석 →
H296Y Uncertain significance 0.253 benign 해석 →
H385R Uncertain significance 0.074 benign 해석 →
H684R Uncertain significance 0.072 benign 해석 →
H945Q Uncertain significance 0.107 benign 해석 →
H980Q Uncertain significance 0.071 benign 해석 →
I137T Uncertain significance 0.536 ambiguous 해석 →
I145T Uncertain significance 0.631 pathogenic 해석 →
I400V Uncertain significance 0.076 benign 해석 →
I4F Uncertain significance 0.062 benign 해석 →
I540F Uncertain significance 0.144 benign 해석 →
I540T Uncertain significance 0.093 benign 해석 →
I851T Uncertain significance 0.109 benign 해석 →
I959V Uncertain significance 0.056 benign 해석 →
K178T Uncertain significance 0.448 ambiguous 해석 →
K277R Uncertain significance 0.076 benign 해석 →
K292E Uncertain significance 0.431 ambiguous 해석 →
K367R Uncertain significance 0.087 benign 해석 →
K397E Uncertain significance 0.266 benign 해석 →
K641R Uncertain significance 0.074 benign 해석 →
L284V Uncertain significance 0.075 benign 해석 →
L404I Uncertain significance 0.167 benign 해석 →
L9V Uncertain significance 0.054 benign 해석 →
M734V Uncertain significance 0.822 pathogenic 해석 →
M814V Uncertain significance 0.563 ambiguous 해석 →
M925V Uncertain significance 0.367 ambiguous 해석 →
M972T Uncertain significance 0.621 pathogenic 해석 →
N109S Uncertain significance 0.137 benign 해석 →
N140K Uncertain significance 0.273 benign 해석 →
N235S Uncertain significance 0.083 benign 해석 →
N423K Uncertain significance 0.390 ambiguous 해석 →
N425H Uncertain significance 0.079 benign 해석 →
N504S Uncertain significance 0.087 benign 해석 →
N74S Uncertain significance 0.161 benign 해석 →
N876S Uncertain significance 0.061 benign 해석 →
N899K Benign 0.220 benign ✓ 해석 →
P112L Uncertain significance 0.833 pathogenic 해석 →
P205L Uncertain significance 0.177 benign 해석 →
P328S Uncertain significance 0.584 pathogenic 해석 →
P505A Uncertain significance 0.284 benign 해석 →
P599T Uncertain significance 0.988 pathogenic 해석 →
P643S Uncertain significance 0.144 benign 해석 →
P844S Uncertain significance 0.986 pathogenic 해석 →
P845A Uncertain significance 0.081 benign 해석 →
P885L Uncertain significance 0.970 pathogenic 해석 →
P905T Uncertain significance 0.067 benign 해석 →
Q358R Uncertain significance 0.090 benign 해석 →
R209C Uncertain significance 0.307 benign 해석 →
R230Q Uncertain significance 0.101 benign 해석 →
R269Q Uncertain significance 0.082 benign 해석 →
R269W Uncertain significance 0.147 benign 해석 →
R311Q Uncertain significance 0.095 benign 해석 →
R357H Uncertain significance 0.959 pathogenic 해석 →
R378L Uncertain significance 0.099 benign 해석 →
R466Q Uncertain significance 0.100 benign 해석 →
R466W Uncertain significance 0.294 benign 해석 →
R486Q Uncertain significance 0.171 benign 해석 →
R571Q Uncertain significance 0.249 benign 해석 →
R571W Uncertain significance 0.473 ambiguous 해석 →
R573W Uncertain significance 0.529 ambiguous 해석 →
R610Q Uncertain significance 0.142 benign 해석 →
R639C Uncertain significance 0.152 benign 해석 →
R639H Uncertain significance 0.090 benign 해석 →
R717I Uncertain significance 0.545 ambiguous 해석 →
R789Q Uncertain significance 0.991 pathogenic 해석 →
R799H Uncertain significance 0.654 pathogenic 해석 →
R823T Uncertain significance 0.997 pathogenic 해석 →
R890T Uncertain significance 0.303 benign 해석 →
R953T Uncertain significance 0.208 benign 해석 →
R973* Uncertain significance — 미적재 해석 →
S177N Uncertain significance 0.091 benign 해석 →
S177R Uncertain significance 0.305 benign 해석 →
S232F Uncertain significance 0.117 benign 해석 →
S306L Uncertain significance 0.116 benign 해석 →
S382N Uncertain significance 0.079 benign 해석 →
S443C Uncertain significance 0.304 benign 해석 →
S48N Uncertain significance 0.106 benign 해석 →
S525G Uncertain significance 0.347 ambiguous 해석 →
S554L Likely benign 0.133 benign ✓ 해석 →
S738C Uncertain significance 0.115 benign 해석 →
S741C Uncertain significance 0.111 benign 해석 →
S756G Uncertain significance 0.152 benign 해석 →
S763C Uncertain significance 0.905 pathogenic 해석 →
S79R Uncertain significance 0.730 pathogenic 해석 →
S805N Uncertain significance 0.996 pathogenic 해석 →
S829Y Uncertain significance 0.930 pathogenic 해석 →
S895R Uncertain significance 0.390 ambiguous 해석 →
S895T Uncertain significance 0.058 benign 해석 →
T168I Uncertain significance 0.464 ambiguous 해석 →
T286M Likely benign 0.103 benign ✓ 해석 →
T396A Uncertain significance 0.085 benign 해석 →
T407I Uncertain significance 0.669 pathogenic 해석 →
T433A Uncertain significance 0.185 benign 해석 →
T531A Uncertain significance 0.095 benign 해석 →
T534A Uncertain significance 0.084 benign 해석 →
T893M Uncertain significance 0.073 benign 해석 →
T960M Uncertain significance 0.097 benign 해석 →
T974I Uncertain significance 0.131 benign 해석 →
V114I Uncertain significance 0.107 benign 해석 →
V157M Uncertain significance 0.187 benign 해석 →
V548D Uncertain significance 0.915 pathogenic 해석 →
V695L Uncertain significance 0.268 benign 해석 →
V916M Uncertain significance 0.392 ambiguous 해석 →
V946M Conflicting classifications of pathogeni 0.082 benign 해석 →
V97L Uncertain significance 0.249 benign 해석 →
V984L Uncertain significance 0.298 benign 해석 →
V986I Uncertain significance 0.135 benign 해석 →
Y127H Uncertain significance 0.083 benign 해석 →
Y488N Uncertain significance 0.954 pathogenic 해석 →
Y509C Uncertain significance 0.995 pathogenic 해석 →
Y70F Uncertain significance 0.196 benign 해석 →
Y742H Uncertain significance 0.995 pathogenic 해석 →
Y928C Uncertain significance 0.775 pathogenic 해석 →
A275S - 0.097 benign 해석 →
C366G - 0.992 pathogenic 해석 →
D465G - 0.175 benign 해석 →
R538Q - 0.083 benign 해석 →
R610* - — 미적재 해석 →
V365G - 0.275 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.