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

AMH: AM vs ClinVar 일치도

194 변이
✓ 둘 다 병원성
8
✓ 둘 다 양성
21
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
164
AM ↔ ClinVar 비교 가능 변이 30건 중 29건 일치 / 1건 불일치 — 일치도 96.7%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
*561C Likely pathogenic — 미적재 해석 →
C188Y Pathogenic 0.880 pathogenic ✓ 해석 →
E382* Pathogenic — 미적재 해석 →
E389* Pathogenic/Likely pathogenic — 미적재 해석 →
G101R Likely pathogenic 0.904 pathogenic ✓ 해석 →
L339P Likely pathogenic 0.860 pathogenic ✓ 해석 →
P151S Pathogenic 0.334 benign ⚠ 해석 →
P550L Likely pathogenic 0.614 pathogenic ✓ 해석 →
Q217* Pathogenic — 미적재 해석 →
Q384* Pathogenic — 미적재 해석 →
R191* Pathogenic — 미적재 해석 →
R302Q Conflicting classifications of pathogeni 0.160 benign 해석 →
R40* Pathogenic/Likely pathogenic — 미적재 해석 →
R465C Likely pathogenic 0.487 ambiguous 해석 →
R472C Likely pathogenic 0.714 pathogenic ✓ 해석 →
S331L Likely pathogenic 0.492 ambiguous 해석 →
V477A Likely pathogenic 0.883 pathogenic ✓ 해석 →
W371* Pathogenic — 미적재 해석 →
Y167C Pathogenic 0.877 pathogenic ✓ 해석 →
Y503H Pathogenic 0.881 pathogenic ✓ 해석 →
A156T Conflicting classifications of pathogeni 0.079 benign 해석 →
A162V Uncertain significance 0.267 benign 해석 →
A18T Uncertain significance 0.080 benign 해석 →
A18V Likely benign 0.081 benign ✓ 해석 →
A204V Uncertain significance 0.116 benign 해석 →
A206P Uncertain significance 0.391 ambiguous 해석 →
A206V Uncertain significance 0.215 benign 해석 →
A228S Uncertain significance 0.090 benign 해석 →
A306T Uncertain significance 0.077 benign 해석 →
A319V Likely benign 0.120 benign ✓ 해석 →
A31S Uncertain significance 0.088 benign 해석 →
A31T Uncertain significance 0.077 benign 해석 →
A321T Uncertain significance 0.107 benign 해석 →
A354V Uncertain significance 0.110 benign 해석 →
A372T Uncertain significance 0.088 benign 해석 →
A372V Likely benign 0.129 benign ✓ 해석 →
A376V Uncertain significance 0.108 benign 해석 →
A385V Uncertain significance 0.104 benign 해석 →
A405P Uncertain significance 0.229 benign 해석 →
A457S Uncertain significance 0.083 benign 해석 →
A463V Uncertain significance 0.140 benign 해석 →
A518G Uncertain significance 0.154 benign 해석 →
A518T Uncertain significance 0.086 benign 해석 →
A519V Likely benign 0.096 benign ✓ 해석 →
A521V Likely benign 0.176 benign ✓ 해석 →
A530V Uncertain significance 0.255 benign 해석 →
A554T Uncertain significance 0.931 pathogenic 해석 →
A78T Uncertain significance 0.073 benign 해석 →
C488R Uncertain significance 0.994 pathogenic 해석 →
D192G Uncertain significance 0.147 benign 해석 →
D238A Uncertain significance 0.515 ambiguous 해석 →
D238H Uncertain significance 0.644 pathogenic 해석 →
D288E Conflicting classifications of pathogeni 0.538 ambiguous 해석 →
D332A Uncertain significance 0.445 ambiguous 해석 →
D332G Uncertain significance 0.743 pathogenic 해석 →
D332H Uncertain significance 0.492 ambiguous 해석 →
D359N Uncertain significance 0.106 benign 해석 →
D365Y Uncertain significance 0.148 benign 해석 →
D459H Uncertain significance 0.198 benign 해석 →
D459Y Uncertain significance 0.237 benign 해석 →
E160D Uncertain significance 0.114 benign 해석 →
E160Q Uncertain significance 0.135 benign 해석 →
E256K Uncertain significance 0.097 benign 해석 →
E256Q Uncertain significance 0.075 benign 해석 →
E389A Uncertain significance 0.185 benign 해석 →
E466D Uncertain significance 0.410 ambiguous 해석 →
E466K Uncertain significance 0.522 ambiguous 해석 →
F148L Uncertain significance 0.990 pathogenic 해석 →
F323L Uncertain significance 0.813 pathogenic 해석 →
G106S Benign 0.082 benign ✓ 해석 →
G157D Likely benign 0.074 benign ✓ 해석 →
G209S Uncertain significance 0.100 benign 해석 →
G236R Uncertain significance 0.472 ambiguous 해석 →
G264R Uncertain significance 0.266 benign 해석 →
G326S Uncertain significance 0.142 benign 해석 →
G417D Uncertain significance 0.076 benign 해석 →
G417R Uncertain significance 0.141 benign 해석 →
G419R Uncertain significance 0.274 benign 해석 →
G460R Uncertain significance 0.230 benign 해석 →
G93V Uncertain significance 0.217 benign 해석 →
H364R Uncertain significance 0.056 benign 해석 →
H506Q Uncertain significance 0.987 pathogenic 해석 →
H548Y Uncertain significance 0.148 benign 해석 →
L11V Uncertain significance 0.080 benign 해석 →
L233R Uncertain significance 0.430 ambiguous 해석 →
L25F Uncertain significance 0.096 benign 해석 →
L320P Uncertain significance 0.415 ambiguous 해석 →
L404M Uncertain significance 0.400 ambiguous 해석 →
L404P Uncertain significance 0.720 pathogenic 해석 →
L404R Uncertain significance 0.678 pathogenic 해석 →
L410F Uncertain significance 0.147 benign 해석 →
L428R Uncertain significance 0.545 ambiguous 해석 →
L43S Uncertain significance 0.098 benign 해석 →
L535V Uncertain significance 0.128 benign 해석 →
L76P Uncertain significance 0.147 benign 해석 →
L84P Uncertain significance 0.680 pathogenic 해석 →
L84Q Uncertain significance 0.797 pathogenic 해석 →
L9M Uncertain significance 0.123 benign 해석 →
M513T Conflicting classifications of pathogeni 0.946 pathogenic 해석 →
N104H Uncertain significance 0.091 benign 해석 →
N104T Likely benign 0.078 benign ✓ 해석 →
N487S Uncertain significance 0.576 pathogenic 해석 →
N64S Uncertain significance 0.085 benign 해석 →
P144A Uncertain significance 0.132 benign 해석 →
P144S Uncertain significance 0.373 ambiguous 해석 →
P158S Uncertain significance 0.070 benign 해석 →
P168S Uncertain significance 0.247 benign 해석 →
P168T Uncertain significance 0.200 benign 해석 →
P182T Uncertain significance 0.094 benign 해석 →
P189L Likely benign 0.067 benign ✓ 해석 →
P203S Uncertain significance 0.364 ambiguous 해석 →
P261L Uncertain significance 0.131 benign 해석 →
P270S Benign/Likely benign 0.135 benign ✓ 해석 →
P274R Uncertain significance 0.093 benign 해석 →
P284S Uncertain significance 0.081 benign 해석 →
P285S Uncertain significance 0.084 benign 해석 →
P304T Uncertain significance 0.083 benign 해석 →
P311L Uncertain significance 0.109 benign 해석 →
P317R Conflicting classifications of pathogeni 0.141 benign 해석 →
P317S Uncertain significance 0.150 benign 해석 →
P345S Uncertain significance 0.401 ambiguous 해석 →
P352L Uncertain significance 0.200 benign 해석 →
P352S Uncertain significance 0.111 benign 해석 →
P360L Uncertain significance 0.083 benign 해석 →
P366L Uncertain significance 0.122 benign 해석 →
P366R Uncertain significance 0.085 benign 해석 →
P370L Uncertain significance 0.106 benign 해석 →
P394L Uncertain significance 0.278 benign 해석 →
P398L Uncertain significance 0.119 benign 해석 →
P398T Uncertain significance 0.095 benign 해석 →
P402L Uncertain significance 0.175 benign 해석 →
P402T Uncertain significance 0.129 benign 해석 →
P446R Uncertain significance 0.076 benign 해석 →
P46A Uncertain significance 0.076 benign 해석 →
P46H Uncertain significance 0.108 benign 해석 →
P501R Uncertain significance 0.288 benign 해석 →
P94L Uncertain significance 0.116 benign 해석 →
P94S Uncertain significance 0.096 benign 해석 →
Q185E Likely benign 0.224 benign ✓ 해석 →
Q185H Uncertain significance 0.866 pathogenic 해석 →
Q325R Benign/Likely benign 0.150 benign ✓ 해석 →
R108G Uncertain significance 0.056 benign 해석 →
R116W Uncertain significance 0.126 benign 해석 →
R117Q Benign/Likely benign 0.071 benign ✓ 해석 →
R117W Uncertain significance 0.103 benign 해석 →
R123Q Benign 0.084 benign ✓ 해석 →
R129C Uncertain significance 0.211 benign 해석 →
R129H Uncertain significance 0.089 benign 해석 →
R194C Uncertain significance 0.271 benign 해석 →
R202C Uncertain significance 0.217 benign 해석 →
R219H Uncertain significance 0.113 benign 해석 →
R240C Uncertain significance 0.300 benign 해석 →
R26G Uncertain significance 0.058 benign 해석 →
R26T Uncertain significance 0.094 benign 해석 →
R2Q Conflicting classifications of pathogeni 0.085 benign 해석 →
R302W Uncertain significance 0.257 benign 해석 →
R307Q Uncertain significance 0.083 benign 해석 →
R312H Uncertain significance 0.112 benign 해석 →
R338H Uncertain significance 0.098 benign 해석 →
R351K Uncertain significance 0.179 benign 해석 →
R441L Uncertain significance 0.141 benign 해석 →
R441P Uncertain significance 0.176 benign 해석 →
R451H Uncertain significance 0.307 benign 해석 →
R475H Uncertain significance 0.095 benign 해석 →
R502L Uncertain significance 0.155 benign 해석 →
R522P Uncertain significance 0.874 pathogenic 해석 →
R560G Uncertain significance 0.944 pathogenic 해석 →
R91H Uncertain significance 0.082 benign 해석 →
R95Q Likely benign 0.076 benign ✓ 해석 →
S114P Uncertain significance 0.075 benign 해석 →
S223F Uncertain significance 0.174 benign 해석 →
S331P Conflicting classifications of pathogeni 0.635 pathogenic 해석 →
S368L Uncertain significance 0.141 benign 해석 →
S476P Uncertain significance 0.831 pathogenic 해석 →
S49I Benign 0.081 benign ✓ 해석 →
S540L Uncertain significance 0.432 ambiguous 해석 →
S8T Uncertain significance 0.079 benign 해석 →
T105P Likely benign 0.044 benign ✓ 해석 →
T143I Benign 0.134 benign ✓ 해석 →
T215A Uncertain significance 0.106 benign 해석 →
T268A Uncertain significance 0.075 benign 해석 →
T268I Uncertain significance 0.143 benign 해석 →
T293M Uncertain significance 0.202 benign 해석 →
T373P Uncertain significance 0.065 benign 해석 →
T99S Uncertain significance 0.151 benign 해석 →
V102I Benign 0.076 benign ✓ 해석 →
V12G Uncertain significance 0.097 benign 해석 →
V131L Likely benign 0.108 benign ✓ 해석 →
V515A Benign 0.036 benign ✓ 해석 →
V553A Uncertain significance 0.787 pathogenic 해석 →
V553L Uncertain significance 0.870 pathogenic 해석 →
W371R Uncertain significance 0.749 pathogenic 해석 →
W438L Uncertain significance 0.388 ambiguous 해석 →
Y483H Uncertain significance 0.990 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.