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

PTPRJ: AM vs ClinVar 일치도

203 변이
✓ 둘 다 병원성
0
✓ 둘 다 양성
27
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
175
AM ↔ ClinVar 비교 가능 변이 28건 중 27건 일치 / 1건 불일치 — 일치도 96.4%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
Q276P Conflicting classifications of pathogeni 0.059 benign 해석 →
R214C Pathogenic 0.153 benign ⚠ 해석 →
A1003E Uncertain significance 0.174 benign 해석 →
A1003T Uncertain significance 0.074 benign 해석 →
A1042T Uncertain significance 0.939 pathogenic 해석 →
A1324E Uncertain significance 0.134 benign 해석 →
A293T Benign 0.083 benign ✓ 해석 →
A542V Uncertain significance 0.153 benign 해석 →
A670T Uncertain significance 0.068 benign 해석 →
A746T Likely benign 0.064 benign ✓ 해석 →
A762V Likely benign 0.070 benign ✓ 해석 →
C516W Uncertain significance 0.524 ambiguous 해석 →
C809S Uncertain significance 0.783 pathogenic 해석 →
D1286H Uncertain significance 0.953 pathogenic 해석 →
D252N Uncertain significance 0.082 benign 해석 →
D564N Uncertain significance 0.205 benign 해석 →
D650E Likely benign 0.085 benign ✓ 해석 →
D94N Uncertain significance 0.075 benign 해석 →
D969N Uncertain significance 0.216 benign 해석 →
E336Q Uncertain significance 0.083 benign 해석 →
E361K Uncertain significance 0.131 benign 해석 →
E442Q Uncertain significance 0.105 benign 해석 →
E55G Uncertain significance 0.060 benign 해석 →
E728K Uncertain significance 0.084 benign 해석 →
E7K Uncertain significance 0.572 pathogenic 해석 →
E891G Uncertain significance 0.070 benign 해석 →
F1041I Uncertain significance 0.990 pathogenic 해석 →
F123L Uncertain significance 0.836 pathogenic 해석 →
F68C Uncertain significance 0.098 benign 해석 →
G1102D Uncertain significance 0.988 pathogenic 해석 →
G1207S Uncertain significance 0.774 pathogenic 해석 →
G1244R Uncertain significance 0.999 pathogenic 해석 →
G191S Uncertain significance 0.111 benign 해석 →
G219R Uncertain significance 0.404 ambiguous 해석 →
G322S Likely benign 0.088 benign ✓ 해석 →
G338D Likely benign 0.207 benign ✓ 해석 →
G423R Uncertain significance 0.188 benign 해석 →
G471S Conflicting classifications of pathogeni 0.093 benign 해석 →
G711V Uncertain significance 0.121 benign 해석 →
G745A Uncertain significance 0.375 ambiguous 해석 →
G773D Uncertain significance 0.072 benign 해석 →
G821A Uncertain significance 0.104 benign 해석 →
G857R Uncertain significance 0.115 benign 해석 →
G860C Uncertain significance 0.134 benign 해석 →
G860D Uncertain significance 0.085 benign 해석 →
G950R Uncertain significance 0.274 benign 해석 →
H1089R Uncertain significance 0.074 benign 해석 →
H1199N Uncertain significance 0.908 pathogenic 해석 →
H155Y Uncertain significance 0.102 benign 해석 →
H451R Benign 0.123 benign ✓ 해석 →
H451Y Likely benign 0.042 benign ✓ 해석 →
H861Q Uncertain significance 0.085 benign 해석 →
I1164V Uncertain significance 0.070 benign 해석 →
I1172T Uncertain significance 0.081 benign 해석 →
I1235T Benign 0.189 benign ✓ 해석 →
I1259M Uncertain significance 0.049 benign 해석 →
I1259T Uncertain significance 0.381 ambiguous 해석 →
I1336N Uncertain significance 0.486 ambiguous 해석 →
I136V Uncertain significance 0.109 benign 해석 →
I243T Uncertain significance 0.058 benign 해석 →
I360T Uncertain significance 0.074 benign 해석 →
I470M Likely benign 0.129 benign ✓ 해석 →
I506T Uncertain significance 0.116 benign 해석 →
I575V Uncertain significance 0.079 benign 해석 →
I58L Uncertain significance 0.069 benign 해석 →
I606V Uncertain significance 0.079 benign 해석 →
I632T Uncertain significance 0.124 benign 해석 →
K1014Q Uncertain significance 0.177 benign 해석 →
K1032R Uncertain significance 0.178 benign 해석 →
K150T Uncertain significance 0.090 benign 해석 →
K222N Uncertain significance 0.214 benign 해석 →
K222R Uncertain significance 0.088 benign 해석 →
K281N Uncertain significance 0.152 benign 해석 →
K848I Uncertain significance 0.277 benign 해석 →
K868I Uncertain significance 0.224 benign 해석 →
L239F Uncertain significance 0.093 benign 해석 →
L28V Uncertain significance 0.113 benign 해석 →
M1126T Uncertain significance 0.883 pathogenic 해석 →
M1168V Uncertain significance 0.105 benign 해석 →
M722V Likely benign 0.037 benign ✓ 해석 →
N1038D Uncertain significance 0.380 ambiguous 해석 →
N1072T Uncertain significance 0.283 benign 해석 →
N1098S Uncertain significance 0.042 benign 해석 →
N1292H Uncertain significance 0.294 benign 해석 →
N172D Uncertain significance 0.152 benign 해석 →
N192S Benign 0.088 benign ✓ 해석 →
N278D Uncertain significance 0.090 benign 해석 →
N342S Uncertain significance 0.092 benign 해석 →
N525D Uncertain significance 0.108 benign 해석 →
N536D Uncertain significance 0.148 benign 해석 →
N536S Uncertain significance 0.066 benign 해석 →
N666D Uncertain significance 0.072 benign 해석 →
N747K Uncertain significance 0.444 ambiguous 해석 →
N760I Uncertain significance 0.121 benign 해석 →
N831H Uncertain significance 0.129 benign 해석 →
P1154H Uncertain significance 0.898 pathogenic 해석 →
P132A Uncertain significance 0.168 benign 해석 →
P169S Uncertain significance 0.111 benign 해석 →
P207L Uncertain significance 0.616 pathogenic 해석 →
P22S Uncertain significance 0.269 benign 해석 →
P272L Likely benign 0.097 benign ✓ 해석 →
P3L Uncertain significance 0.387 ambiguous 해석 →
P44T Uncertain significance 0.061 benign 해석 →
P453L Uncertain significance 0.120 benign 해석 →
P456A Uncertain significance 0.114 benign 해석 →
P719R Uncertain significance 0.522 ambiguous 해석 →
P744R Uncertain significance 0.092 benign 해석 →
P846A Uncertain significance 0.158 benign 해석 →
Q1033H Uncertain significance 0.976 pathogenic 해석 →
Q1228R Likely benign 0.131 benign ✓ 해석 →
Q1258H Uncertain significance 0.934 pathogenic 해석 →
Q267L Uncertain significance 0.131 benign 해석 →
Q356R Uncertain significance 0.104 benign 해석 →
Q358R Uncertain significance 0.083 benign 해석 →
Q488H Uncertain significance 0.211 benign 해석 →
R1081C Uncertain significance 0.579 pathogenic 해석 →
R1125C Uncertain significance 0.145 benign 해석 →
R1254C Uncertain significance 0.222 benign 해석 →
R1254H Uncertain significance 0.099 benign 해석 →
R177C Uncertain significance 0.134 benign 해석 →
R29C Uncertain significance 0.611 pathogenic 해석 →
R340P Uncertain significance 0.219 benign 해석 →
R418C Uncertain significance 0.167 benign 해석 →
R418H Likely benign 0.082 benign ✓ 해석 →
R425C Uncertain significance 0.134 benign 해석 →
R425H Likely benign 0.072 benign ✓ 해석 →
R461L Uncertain significance 0.194 benign 해석 →
R6W Uncertain significance 0.815 pathogenic 해석 →
R712Q Uncertain significance 0.067 benign 해석 →
R806Q Likely benign 0.058 benign ✓ 해석 →
R806W Uncertain significance 0.072 benign 해석 →
R894C Uncertain significance 0.110 benign 해석 →
R894H Uncertain significance 0.070 benign 해석 →
R959C Uncertain significance 0.112 benign 해석 →
R959H Likely benign 0.071 benign ✓ 해석 →
S1085L Uncertain significance 0.086 benign 해석 →
S1233L Uncertain significance 0.155 benign 해석 →
S242G Likely benign 0.070 benign ✓ 해석 →
S260L Uncertain significance 0.141 benign 해석 →
S347P Likely benign 0.082 benign ✓ 해석 →
S378I Uncertain significance 0.497 ambiguous 해석 →
S389C Uncertain significance 0.172 benign 해석 →
S393L Uncertain significance 0.100 benign 해석 →
S395F Uncertain significance 0.133 benign 해석 →
S415N Likely benign 0.087 benign ✓ 해석 →
S494F Uncertain significance 0.132 benign 해석 →
S503T Uncertain significance 0.103 benign 해석 →
S531F Uncertain significance 0.205 benign 해석 →
S531P Likely benign 0.060 benign ✓ 해석 →
S541C Uncertain significance 0.261 benign 해석 →
S581C Uncertain significance 0.130 benign 해석 →
S635R Benign 0.122 benign ✓ 해석 →
S767N Uncertain significance 0.082 benign 해석 →
S769F Uncertain significance 0.098 benign 해석 →
S827C Uncertain significance 0.179 benign 해석 →
T1169I Uncertain significance 0.128 benign 해석 →
T1315A Uncertain significance 0.101 benign 해석 →
T1315I Uncertain significance 0.585 pathogenic 해석 →
T133N Uncertain significance 0.127 benign 해석 →
T328M Uncertain significance 0.147 benign 해석 →
T463I Uncertain significance 0.270 benign 해석 →
T499A Benign 0.121 benign ✓ 해석 →
T50P Uncertain significance 0.070 benign 해석 →
T605I Uncertain significance 0.310 benign 해석 →
T778M Uncertain significance 0.088 benign 해석 →
T778R Uncertain significance 0.088 benign 해석 →
T781M Likely benign 0.083 benign ✓ 해석 →
T795I Uncertain significance 0.404 ambiguous 해석 →
T81K Uncertain significance 0.075 benign 해석 →
T81R Uncertain significance 0.071 benign 해석 →
T855I Uncertain significance 0.570 pathogenic 해석 →
T855N Uncertain significance 0.415 ambiguous 해석 →
T870M Uncertain significance 0.196 benign 해석 →
T989S Uncertain significance 0.142 benign 해석 →
V1222I Likely benign 0.169 benign ✓ 해석 →
V1265M Uncertain significance 0.671 pathogenic 해석 →
V345I Uncertain significance 0.115 benign 해석 →
V388L Uncertain significance 0.194 benign 해석 →
V455D Uncertain significance 0.090 benign 해석 →
V548M Uncertain significance 0.184 benign 해석 →
V613I Uncertain significance 0.076 benign 해석 →
V684I Uncertain significance 0.076 benign 해석 →
V964I Uncertain significance 0.092 benign 해석 →
V964L Uncertain significance 0.324 benign 해석 →
V990L Uncertain significance 0.280 benign 해석 →
W1128R Uncertain significance 0.924 pathogenic 해석 →
W170R Likely benign 0.137 benign ✓ 해석 →
W759G Uncertain significance 0.194 benign 해석 →
Y1029C Uncertain significance 0.460 ambiguous 해석 →
Y1152C Uncertain significance 0.960 pathogenic 해석 →
Y1161D Uncertain significance 0.503 ambiguous 해석 →
Y1225C Uncertain significance 0.176 benign 해석 →
Y273C Uncertain significance 0.100 benign 해석 →
Y550C Uncertain significance 0.122 benign 해석 →
Y693C Uncertain significance 0.423 ambiguous 해석 →
Y776C Uncertain significance 0.121 benign 해석 →
E206K - 0.111 benign 해석 →
G508D - 0.075 benign 해석 →
I791F - 0.204 benign 해석 →
M1281K - 0.997 pathogenic 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.