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

PAX1: AM vs ClinVar 일치도

220 변이
✓ 둘 다 병원성
2
✓ 둘 다 양성
9
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
209
AM ↔ ClinVar 비교 가능 변이 11건 중 11건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
C368* Pathogenic — 미적재 해석 →
C59* Pathogenic/Likely pathogenic — 미적재 해석 →
E235* Likely pathogenic — 미적재 해석 →
G166V Pathogenic 0.999 pathogenic ✓ 해석 →
P170H Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
Q38* Pathogenic — 미적재 해석 →
S53* Conflicting classifications of pathogeni — 미적재 해석 →
V147L Pathogenic 0.998 pathogenic ✓ 해석 →
W16* Pathogenic — 미적재 해석 →
Y386* Likely pathogenic — 미적재 해석 →
A11G Uncertain significance 0.086 benign 해석 →
A11V Benign/Likely benign 0.292 benign ✓ 해석 →
A127V Uncertain significance 0.989 pathogenic 해석 →
A152V Uncertain significance 0.989 pathogenic 해석 →
A19T Uncertain significance 0.121 benign 해석 →
A21G Uncertain significance 0.079 benign 해석 →
A229G Uncertain significance 0.097 benign 해석 →
A229S Likely benign 0.067 benign ✓ 해석 →
A265V Uncertain significance 0.101 benign 해석 →
A277T Uncertain significance 0.073 benign 해석 →
A309G Uncertain significance 0.079 benign 해석 →
A315T Uncertain significance 0.065 benign 해석 →
A32P Uncertain significance 0.077 benign 해석 →
A32V Uncertain significance 0.127 benign 해석 →
A333D Uncertain significance 0.314 benign 해석 →
A333T Uncertain significance 0.066 benign 해석 →
A367P Uncertain significance 0.119 benign 해석 →
A388D Uncertain significance 0.334 benign 해석 →
A396E Uncertain significance 0.322 benign 해석 →
A409G Uncertain significance 0.098 benign 해석 →
A416E Uncertain significance 0.345 ambiguous 해석 →
A417S Uncertain significance 0.100 benign 해석 →
A454S Likely benign — 미적재 해석 →
A454T Likely benign — 미적재 해석 →
A55V Uncertain significance 0.097 benign 해석 →
A69T Uncertain significance 0.100 benign 해석 →
A90V Uncertain significance 0.117 benign 해석 →
A94P Uncertain significance 0.072 benign 해석 →
C35R Uncertain significance 0.110 benign 해석 →
C35Y Uncertain significance 0.125 benign 해석 →
C368R Uncertain significance 0.868 pathogenic 해석 →
C73G Uncertain significance 0.044 benign 해석 →
C73S Uncertain significance 0.085 benign 해석 →
D188A Uncertain significance 0.991 pathogenic 해석 →
D322N Likely benign 0.223 benign ✓ 해석 →
E156D Uncertain significance 0.921 pathogenic 해석 →
E235Q Uncertain significance 0.402 ambiguous 해석 →
E321K Uncertain significance 0.744 pathogenic 해석 →
F301C Uncertain significance 0.705 pathogenic 해석 →
F3S Uncertain significance 0.627 pathogenic 해석 →
G158S Uncertain significance 0.989 pathogenic 해석 →
G163R Uncertain significance 0.997 pathogenic 해석 →
G166A Uncertain significance 0.996 pathogenic 해석 →
G166R Uncertain significance 0.999 pathogenic 해석 →
G18A Uncertain significance 0.089 benign 해석 →
G18R Conflicting classifications of pathogeni 0.103 benign 해석 →
G204A Uncertain significance 0.329 benign 해석 →
G226R Uncertain significance 0.983 pathogenic 해석 →
G226V Uncertain significance 0.952 pathogenic 해석 →
G232E Uncertain significance 0.514 ambiguous 해석 →
G264D Uncertain significance 0.427 ambiguous 해석 →
G264S Uncertain significance 0.081 benign 해석 →
G272R Uncertain significance 0.447 ambiguous 해석 →
G272V Uncertain significance 0.137 benign 해석 →
G275S Uncertain significance 0.081 benign 해석 →
G297D Uncertain significance 0.970 pathogenic 해석 →
G313S Uncertain significance 0.081 benign 해석 →
G377C Uncertain significance 0.155 benign 해석 →
G377S Uncertain significance 0.075 benign 해석 →
G384C Uncertain significance 0.141 benign 해석 →
G384S Uncertain significance 0.084 benign 해석 →
G398A Uncertain significance 0.084 benign 해석 →
G405R Uncertain significance 0.422 ambiguous 해석 →
G405R Uncertain significance 0.422 ambiguous 해석 →
G407R Uncertain significance 0.398 ambiguous 해석 →
G413R Uncertain significance 0.357 ambiguous 해석 →
G437S Likely benign — 미적재 해석 →
G437V Uncertain significance — 미적재 해석 →
G449V Uncertain significance — 미적재 해석 →
G46A Uncertain significance 0.085 benign 해석 →
G46R Uncertain significance 0.140 benign 해석 →
G64D Uncertain significance 0.113 benign 해석 →
G65S Uncertain significance 0.096 benign 해석 →
G66A Uncertain significance 0.069 benign 해석 →
G79R Uncertain significance 0.103 benign 해석 →
G79S Uncertain significance 0.090 benign 해석 →
G82R Uncertain significance 0.102 benign 해석 →
G8E Uncertain significance 0.216 benign 해석 →
G8R Uncertain significance 0.413 ambiguous 해석 →
G91C Uncertain significance 0.112 benign 해석 →
H144R Uncertain significance 0.999 pathogenic 해석 →
H290Q Uncertain significance 0.927 pathogenic 해석 →
H376Q Uncertain significance 0.186 benign 해석 →
H411Y Uncertain significance 0.172 benign 해석 →
H423P Uncertain significance 0.126 benign 해석 →
H448Y Likely benign — 미적재 해석 →
H83R Uncertain significance 0.060 benign 해석 →
H83Y Uncertain significance 0.082 benign 해석 →
I160F Uncertain significance 0.993 pathogenic 해석 →
I165V Uncertain significance 0.879 pathogenic 해석 →
I191V Uncertain significance 0.801 pathogenic 해석 →
I251T Uncertain significance 0.933 pathogenic 해석 →
I349V Uncertain significance 0.139 benign 해석 →
K208R Uncertain significance 0.336 benign 해석 →
K224R Uncertain significance 0.480 ambiguous 해석 →
K266R Uncertain significance 0.087 benign 해석 →
K319Q Uncertain significance 0.243 benign 해석 →
K422N Uncertain significance 0.893 pathogenic 해석 →
K439N Uncertain significance — 미적재 해석 →
L228V Uncertain significance 0.158 benign 해석 →
L33F Uncertain significance 0.134 benign 해석 →
L33P Benign/Likely benign 0.078 benign ✓ 해석 →
L33V Uncertain significance 0.087 benign 해석 →
L340P Uncertain significance 0.176 benign 해석 →
L365F Uncertain significance 0.228 benign 해석 →
L387H Uncertain significance 0.342 ambiguous 해석 →
L447F Uncertain significance — 미적재 해석 →
L70P Uncertain significance 0.070 benign 해석 →
M302V Uncertain significance 0.089 benign 해석 →
M320V Uncertain significance 0.083 benign 해석 →
M419L Uncertain significance 0.157 benign 해석 →
N111K Uncertain significance 0.999 pathogenic 해석 →
N155K Uncertain significance 0.988 pathogenic 해석 →
N155S Uncertain significance 0.322 benign 해석 →
N176S Uncertain significance 0.078 benign 해석 →
P170R Uncertain significance 0.999 pathogenic 해석 →
P233L Uncertain significance 0.092 benign 해석 →
P241L Uncertain significance 0.079 benign 해석 →
P262R Uncertain significance 0.258 benign 해석 →
P26L Uncertain significance 0.157 benign 해석 →
P271A Uncertain significance 0.071 benign 해석 →
P318L Uncertain significance 0.130 benign 해석 →
P343L Uncertain significance 0.124 benign 해석 →
P389R Uncertain significance 0.208 benign 해석 →
P391L Uncertain significance 0.099 benign 해석 →
P392R Uncertain significance 0.228 benign 해석 →
P394L Uncertain significance 0.099 benign 해석 →
P394Q Likely benign 0.109 benign ✓ 해석 →
P403S Uncertain significance 0.070 benign 해석 →
P403T Uncertain significance 0.085 benign 해석 →
P404A Conflicting classifications of pathogeni 0.060 benign 해석 →
P424R Uncertain significance 0.150 benign 해석 →
P43L Uncertain significance 0.141 benign 해석 →
P441A Likely benign — 미적재 해석 →
P453A Likely benign 0.065 benign ✓ 해석 →
P453L Uncertain significance 0.124 benign 해석 →
P453S Likely benign 0.094 benign ✓ 해석 →
P57S Uncertain significance 0.103 benign 해석 →
P92Q Uncertain significance 0.080 benign 해석 →
Q230R Uncertain significance 0.438 ambiguous 해석 →
Q304P Uncertain significance 0.112 benign 해석 →
Q304R Uncertain significance 0.248 benign 해석 →
Q375E Likely benign 0.195 benign ✓ 해석 →
R10Q Uncertain significance 0.209 benign 해석 →
R113C Uncertain significance 0.991 pathogenic 해석 →
R113H Uncertain significance 0.979 pathogenic 해석 →
R120C Uncertain significance 0.995 pathogenic 해석 →
R132Q Uncertain significance 0.988 pathogenic 해석 →
R138Q Uncertain significance 0.991 pathogenic 해석 →
R13G Uncertain significance 0.093 benign 해석 →
R153C Uncertain significance 0.997 pathogenic 해석 →
R328P Uncertain significance 0.545 ambiguous 해석 →
R34C Uncertain significance 0.167 benign 해석 →
R36G Likely benign 0.052 benign ✓ 해석 →
R36H Uncertain significance 0.157 benign 해석 →
R39C Uncertain significance 0.292 benign 해석 →
R39H Uncertain significance 0.174 benign 해석 →
R426* Uncertain significance — 미적재 해석 →
R44Q Uncertain significance 0.140 benign 해석 →
R44W Uncertain significance 0.184 benign 해석 →
R62H Uncertain significance 0.141 benign 해석 →
R62P Uncertain significance 0.088 benign 해석 →
S15C Uncertain significance 0.163 benign 해석 →
S227I Uncertain significance 0.317 benign 해석 →
S258G Uncertain significance 0.075 benign 해석 →
S258T Uncertain significance 0.096 benign 해석 →
S261L Uncertain significance 0.114 benign 해석 →
S261P Uncertain significance 0.136 benign 해석 →
S269C Uncertain significance 0.080 benign 해석 →
S269G Uncertain significance 0.066 benign 해석 →
S288L Uncertain significance 0.725 pathogenic 해석 →
S291L Uncertain significance 0.800 pathogenic 해석 →
S311N Uncertain significance 0.094 benign 해석 →
S373A Uncertain significance 0.088 benign 해석 →
S373P Uncertain significance 0.126 benign 해석 →
S435T Uncertain significance — 미적재 해석 →
S53L Uncertain significance 0.125 benign 해석 →
S61L Uncertain significance 0.172 benign 해석 →
S77R Uncertain significance 0.150 benign 해석 →
T245M Uncertain significance 0.095 benign 해석 →
T263S Uncertain significance 0.076 benign 해석 →
T276M Uncertain significance 0.093 benign 해석 →
T305A Uncertain significance 0.086 benign 해석 →
T314A Uncertain significance 0.053 benign 해석 →
T329R Uncertain significance 0.303 benign 해석 →
T352I Uncertain significance 0.315 benign 해석 →
T98M Uncertain significance 0.296 benign 해석 →
V108E Uncertain significance 0.968 pathogenic 해석 →
V108M Uncertain significance 0.725 pathogenic 해석 →
V205I Uncertain significance 0.211 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.