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

TRPV1: AM vs ClinVar 일치도

153 변이
✓ 둘 다 병원성
1
✓ 둘 다 양성
10
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
142
AM ↔ ClinVar 비교 가능 변이 11건 중 11건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
N331K Likely pathogenic 0.996 pathogenic ✓ 해석 →
A103T Likely benign 0.066 benign ✓ 해석 →
A104S Uncertain significance 0.075 benign 해석 →
A181T Uncertain significance 0.819 pathogenic 해석 →
A209V Uncertain significance 0.993 pathogenic 해석 →
A231T Uncertain significance 0.136 benign 해석 →
A257G Uncertain significance 0.693 pathogenic 해석 →
A257T Uncertain significance 0.792 pathogenic 해석 →
A280T Uncertain significance 0.125 benign 해석 →
A291T Uncertain significance 0.379 ambiguous 해석 →
A342T Uncertain significance 0.674 pathogenic 해석 →
A566T Uncertain significance 0.325 benign 해석 →
A792V Uncertain significance 0.153 benign 해석 →
A827S Uncertain significance 0.082 benign 해석 →
A835T Uncertain significance 0.061 benign 해석 →
C21* Uncertain significance — 미적재 해석 →
C716R Uncertain significance 0.445 ambiguous 해석 →
D14E Uncertain significance 0.079 benign 해석 →
D23H Uncertain significance 0.101 benign 해석 →
D297N Uncertain significance 0.515 ambiguous 해석 →
D301N Uncertain significance 0.120 benign 해석 →
D384G Uncertain significance 0.998 pathogenic 해석 →
D384N Uncertain significance 0.982 pathogenic 해석 →
D389H Uncertain significance 0.997 pathogenic 해석 →
D625N Likely benign 0.074 benign ✓ 해석 →
D708Y Uncertain significance 0.941 pathogenic 해석 →
D826G Uncertain significance 0.093 benign 해석 →
D8A Uncertain significance 0.086 benign 해석 →
E107K Uncertain significance 0.073 benign 해석 →
E189D Uncertain significance 0.121 benign 해석 →
E312A Uncertain significance 0.233 benign 해석 →
E360D Uncertain significance 0.083 benign 해석 →
E362K Uncertain significance 0.129 benign 해석 →
E406K Uncertain significance 0.144 benign 해석 →
E467A Uncertain significance 0.090 benign 해석 →
F370Y Uncertain significance 0.801 pathogenic 해석 →
F430L Uncertain significance 0.995 pathogenic 해석 →
F589L Likely benign 0.499 ambiguous 해석 →
F59L Uncertain significance 0.226 benign 해석 →
G169R Uncertain significance 0.587 pathogenic 해석 →
G225R Uncertain significance 0.639 pathogenic 해석 →
G249D Uncertain significance 0.999 pathogenic 해석 →
G345R Uncertain significance 0.984 pathogenic 해석 →
G460S Uncertain significance 0.115 benign 해석 →
G51E Uncertain significance 0.149 benign 해석 →
G548D Uncertain significance 0.997 pathogenic 해석 →
G602R Uncertain significance 0.153 benign 해석 →
G724D Uncertain significance 0.999 pathogenic 해석 →
G820R Uncertain significance 0.157 benign 해석 →
G837R Uncertain significance 0.081 benign 해석 →
G90S Uncertain significance 0.078 benign 해석 →
G93S Uncertain significance 0.066 benign 해석 →
H167R Uncertain significance 0.078 benign 해석 →
H65Q Uncertain significance 0.075 benign 해석 →
I118F Uncertain significance 0.679 pathogenic 해석 →
I174F Uncertain significance 0.907 pathogenic 해석 →
I210F Uncertain significance 0.993 pathogenic 해석 →
I210S Uncertain significance 0.983 pathogenic 해석 →
I358M Uncertain significance 0.152 benign 해석 →
I434V Uncertain significance 0.134 benign 해석 →
I673L Uncertain significance 0.844 pathogenic 해석 →
I706M Uncertain significance 0.884 pathogenic 해석 →
I82V Likely benign 0.063 benign ✓ 해석 →
I84T Uncertain significance 0.105 benign 해석 →
K571T Uncertain significance 0.904 pathogenic 해석 →
K640E Uncertain significance 0.989 pathogenic 해석 →
K789R Uncertain significance 0.079 benign 해석 →
L177H Uncertain significance 0.989 pathogenic 해석 →
L25P Likely benign 0.047 benign ✓ 해석 →
L329F Uncertain significance 0.145 benign 해석 →
L340P Uncertain significance 0.993 pathogenic 해석 →
L515R Uncertain significance 0.887 pathogenic 해석 →
L679V Uncertain significance 0.972 pathogenic 해석 →
M309V Uncertain significance 0.156 benign 해석 →
M413V Uncertain significance 0.843 pathogenic 해석 →
M678V Uncertain significance 0.967 pathogenic 해석 →
N438S Uncertain significance 0.132 benign 해석 →
N756K Uncertain significance 0.908 pathogenic 해석 →
N761T Uncertain significance 0.277 benign 해석 →
P24S Uncertain significance 0.068 benign 해석 →
P322L Uncertain significance 0.472 ambiguous 해석 →
P361S Uncertain significance 0.206 benign 해석 →
P38T Uncertain significance 0.068 benign 해석 →
P462S Uncertain significance 0.754 pathogenic 해석 →
P501L Uncertain significance 0.530 ambiguous 해석 →
P608L Uncertain significance 0.069 benign 해석 →
P733S Uncertain significance 0.411 ambiguous 해석 →
P74L Uncertain significance 0.134 benign 해석 →
Q261R Uncertain significance 0.958 pathogenic 해석 →
Q39K Uncertain significance 0.075 benign 해석 →
Q39R Uncertain significance 0.064 benign 해석 →
R213C Uncertain significance 0.930 pathogenic 해석 →
R213H Uncertain significance 0.878 pathogenic 해석 →
R243L Uncertain significance 0.313 benign 해석 →
R243Q Uncertain significance 0.121 benign 해석 →
R410H Uncertain significance 0.688 pathogenic 해석 →
R491Q Uncertain significance 0.246 benign 해석 →
R500Q Uncertain significance 0.112 benign 해석 →
R579H Uncertain significance 0.459 ambiguous 해석 →
R622K Uncertain significance 0.071 benign 해석 →
R722H Uncertain significance 0.505 ambiguous 해석 →
R786K Uncertain significance 0.093 benign 해석 →
R803Q Uncertain significance 0.095 benign 해석 →
R816Q Uncertain significance 0.075 benign 해석 →
R86S Uncertain significance 0.164 benign 해석 →
S186R Uncertain significance 0.714 pathogenic 해석 →
S198N Uncertain significance 0.116 benign 해석 →
S283L Uncertain significance 0.259 benign 해석 →
S403R Uncertain significance 0.553 ambiguous 해석 →
S481C Uncertain significance 0.130 benign 해석 →
S544F Uncertain significance 0.948 pathogenic 해석 →
S613L Uncertain significance 0.068 benign 해석 →
S72Y Uncertain significance 0.080 benign 해석 →
T184M Uncertain significance 0.161 benign 해석 →
T196M Uncertain significance 0.140 benign 해석 →
T20A Likely benign 0.056 benign ✓ 해석 →
T219A Benign 0.083 benign ✓ 해석 →
T287M Uncertain significance 0.161 benign 해석 →
T299M Uncertain significance 0.293 benign 해석 →
T303M Uncertain significance 0.335 benign 해석 →
T307M Uncertain significance 0.124 benign 해석 →
T323S Uncertain significance 0.065 benign 해석 →
T330A Uncertain significance 0.071 benign 해석 →
T371I Uncertain significance 0.912 pathogenic 해석 →
T42M Uncertain significance 0.069 benign 해석 →
T505A Benign 0.068 benign ✓ 해석 →
T505I Uncertain significance 0.161 benign 해석 →
T556N Uncertain significance 0.890 pathogenic 해석 →
T612M Likely benign 0.086 benign ✓ 해석 →
T709M Uncertain significance 0.168 benign 해석 →
T77I Uncertain significance 0.119 benign 해석 →
T77S Uncertain significance 0.105 benign 해석 →
V122I Uncertain significance 0.292 benign 해석 →
V288G Conflicting classifications of pathogeni 0.929 pathogenic 해석 →
V458M Likely benign 0.111 benign ✓ 해석 →
V567I Uncertain significance 0.193 benign 해석 →
V586I Uncertain significance 0.131 benign 해석 →
V770I Likely benign 0.061 benign ✓ 해석 →
V794A Uncertain significance 0.459 ambiguous 해석 →
W616R Uncertain significance 0.180 benign 해석 →
W741G Uncertain significance 0.974 pathogenic 해석 →
W750R Uncertain significance 0.999 pathogenic 해석 →
Y487S Uncertain significance 0.434 ambiguous 해석 →
Y537H Uncertain significance 0.856 pathogenic 해석 →
Y628C Uncertain significance 0.766 pathogenic 해석 →
C767G - 0.094 benign 해석 →
G590W - 0.998 pathogenic 해석 →
L574V - 0.283 benign 해석 →
N409Y - 0.286 benign 해석 →
Q560L - 0.711 pathogenic 해석 →
R744G - 0.992 pathogenic 해석 →
R798I - 0.672 pathogenic 해석 →
V783F - 0.125 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.