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

SIX1: AM vs ClinVar 일치도

156 변이
✓ 둘 다 병원성
16
✓ 둘 다 양성
2
⚠ CV=병원성 / AM=양성
1
⚠ CV=양성 / AM=병원성
0
— AM 미적재
137
AM ↔ ClinVar 비교 가능 변이 19건 중 18건 일치 / 1건 불일치 — 일치도 94.7%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
E125K Pathogenic/Likely pathogenic 0.998 pathogenic ✓ 해석 →
E141* Likely pathogenic — 미적재 해석 →
K114E Pathogenic 1.000 pathogenic ✓ 해석 →
K132N Pathogenic 1.000 pathogenic ✓ 해석 →
K154* Likely pathogenic — 미적재 해석 →
K173Q Uncertain significance 1.000 pathogenic 해석 →
L139R Likely pathogenic 1.000 pathogenic ✓ 해석 →
N170K Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
N174K Pathogenic/Likely pathogenic 1.000 pathogenic ✓ 해석 →
N245D Likely pathogenic 0.109 benign ⚠ 해석 →
P118L Likely pathogenic 0.999 pathogenic ✓ 해석 →
P249L Conflicting classifications of pathogeni 0.116 benign 해석 →
Q167H Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
Q167R Likely pathogenic 1.000 pathogenic ✓ 해석 →
R110L Likely pathogenic 1.000 pathogenic ✓ 해석 →
R110Q Pathogenic 1.000 pathogenic ✓ 해석 →
R110W Pathogenic 1.000 pathogenic ✓ 해석 →
R113* Pathogenic — 미적재 해석 →
R175Q Conflicting classifications of pathogeni 0.997 pathogenic 해석 →
R178S Likely pathogenic 1.000 pathogenic ✓ 해석 →
R178T Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
S76* Pathogenic — 미적재 해석 →
V106L Likely pathogenic 1.000 pathogenic ✓ 해석 →
V106M Likely pathogenic 1.000 pathogenic ✓ 해석 →
W122R Pathogenic 1.000 pathogenic ✓ 해석 →
Y129C Pathogenic 1.000 pathogenic ✓ 해석 →
Y129H Likely pathogenic 1.000 pathogenic ✓ 해석 →
Y129N Conflicting classifications of pathogeni 1.000 pathogenic 해석 →
Y129S Conflicting classifications of pathogeni 0.999 pathogenic 해석 →
A105S Uncertain significance 0.970 pathogenic 해석 →
A144V Uncertain significance 0.185 benign 해석 →
A15E Uncertain significance 0.992 pathogenic 해석 →
A184T Uncertain significance 0.350 ambiguous 해석 →
A241D Uncertain significance 0.224 benign 해석 →
A39S Uncertain significance 0.235 benign 해석 →
A39T Uncertain significance 0.528 ambiguous 해석 →
A90E Uncertain significance 1.000 pathogenic 해석 →
A90T Uncertain significance 0.998 pathogenic 해석 →
D123G Uncertain significance 0.999 pathogenic 해석 →
D227E Uncertain significance 0.145 benign 해석 →
D227Y Conflicting classifications of pathogeni 0.513 ambiguous 해석 →
D269V Uncertain significance 0.721 pathogenic 해석 →
D281E Uncertain significance 0.321 benign 해석 →
D41N Uncertain significance 0.700 pathogenic 해석 →
E12K Uncertain significance 0.996 pathogenic 해석 →
E141G Uncertain significance 0.797 pathogenic 해석 →
E141K Uncertain significance 0.946 pathogenic 해석 →
E153Q Uncertain significance 0.986 pathogenic 해석 →
E183G Uncertain significance 0.915 pathogenic 해석 →
E207A Uncertain significance 0.170 benign 해석 →
E28D Uncertain significance 0.276 benign 해석 →
E47D Uncertain significance 0.990 pathogenic 해석 →
E47Q Uncertain significance 0.993 pathogenic 해석 →
E65V Uncertain significance 0.979 pathogenic 해석 →
F75L Uncertain significance 1.000 pathogenic 해석 →
G100C Uncertain significance 0.996 pathogenic 해석 →
G124A Uncertain significance 0.999 pathogenic 해석 →
G124S Uncertain significance 0.999 pathogenic 해석 →
G250D Uncertain significance 0.312 benign 해석 →
G259C Uncertain significance 0.074 benign 해석 →
G273S Uncertain significance 0.140 benign 해석 →
G283R Uncertain significance 0.956 pathogenic 해석 →
H59R Uncertain significance 0.892 pathogenic 해석 →
H59Y Uncertain significance 0.531 ambiguous 해석 →
H91Q Uncertain significance 0.999 pathogenic 해석 →
K108N Uncertain significance 1.000 pathogenic 해석 →
K114N Uncertain significance 1.000 pathogenic 해석 →
K132N Uncertain significance 1.000 pathogenic 해석 →
K132R Uncertain significance 0.509 ambiguous 해석 →
K173M Uncertain significance 1.000 pathogenic 해석 →
K173T Uncertain significance 1.000 pathogenic 해석 →
K199N Uncertain significance 0.435 ambiguous 해석 →
L157V Uncertain significance 0.993 pathogenic 해석 →
L163F Uncertain significance 1.000 pathogenic 해석 →
L163V Uncertain significance 0.999 pathogenic 해석 →
L212F Uncertain significance 0.091 benign 해석 →
L233M Uncertain significance 0.118 benign 해석 →
L251F Uncertain significance 0.067 benign 해석 →
L260Q Uncertain significance 0.084 benign 해석 →
L271P Uncertain significance 0.632 pathogenic 해석 →
L272P Uncertain significance 0.668 pathogenic 해석 →
L272V Uncertain significance 0.224 benign 해석 →
L50F Uncertain significance 0.979 pathogenic 해석 →
L66R Uncertain significance 0.999 pathogenic 해석 →
L70R Uncertain significance 0.999 pathogenic 해석 →
L98M Uncertain significance 0.403 ambiguous 해석 →
M1I Uncertain significance 0.755 pathogenic 해석 →
M1L Conflicting classifications of pathogeni 0.255 benign 해석 →
M213I Uncertain significance 0.211 benign 해석 →
M213T Uncertain significance 0.154 benign 해석 →
M238K Uncertain significance 0.192 benign 해석 →
M238R Uncertain significance 0.172 benign 해석 →
N170K Uncertain significance 1.000 pathogenic 해석 →
N174K Uncertain significance 1.000 pathogenic 해석 →
N193D Uncertain significance 0.193 benign 해석 →
N193I Conflicting classifications of pathogeni 0.098 benign 해석 →
N245Y Uncertain significance 0.125 benign 해석 →
N62H Uncertain significance 0.297 benign 해석 →
P116L Uncertain significance 0.985 pathogenic 해석 →
P118Q Uncertain significance 1.000 pathogenic 해석 →
P205L Uncertain significance 0.105 benign 해석 →
P211L Uncertain significance 0.081 benign 해석 →
P249Q Benign/Likely benign 0.096 benign ✓ 해석 →
P256L Uncertain significance 0.085 benign 해석 →
P38L Uncertain significance 0.999 pathogenic 해석 →
P5L Uncertain significance 0.901 pathogenic 해석 →
P5Q Uncertain significance 0.723 pathogenic 해석 →
P81S Uncertain significance 0.107 benign 해석 →
Q13H Uncertain significance 0.996 pathogenic 해석 →
Q202E Uncertain significance 0.130 benign 해석 →
Q224R Uncertain significance 0.200 benign 해석 →
Q235H Likely benign 0.145 benign ✓ 해석 →
Q74* Uncertain significance — 미적재 해석 →
Q84* Uncertain significance — 미적재 해석 →
R110G Uncertain significance 1.000 pathogenic 해석 →
R112C not provided 1.000 pathogenic 해석 →
R113Q Uncertain significance 0.998 pathogenic 해석 →
R119H Uncertain significance 0.827 pathogenic 해석 →
R136G Uncertain significance 1.000 pathogenic 해석 →
R136T Uncertain significance 1.000 pathogenic 해석 →
R140Q Uncertain significance 0.952 pathogenic 해석 →
R155G Uncertain significance 0.986 pathogenic 해석 →
R155Q Uncertain significance 0.944 pathogenic 해석 →
R175P Uncertain significance 1.000 pathogenic 해석 →
R176K Uncertain significance 1.000 pathogenic 해석 →
R176S Uncertain significance 1.000 pathogenic 해석 →
R187G Uncertain significance 0.792 pathogenic 해석 →
R242G Uncertain significance 0.080 benign 해석 →
R29L Uncertain significance 0.991 pathogenic 해석 →
R64C Uncertain significance 0.907 pathogenic 해석 →
R64H Conflicting classifications of pathogeni 0.725 pathogenic 해석 →
R99H Uncertain significance 0.999 pathogenic 해석 →
S169G Uncertain significance 0.966 pathogenic 해석 →
S195P Uncertain significance 0.093 benign 해석 →
S215G Uncertain significance 0.104 benign 해석 →
S215I Uncertain significance 0.347 ambiguous 해석 →
S230L Uncertain significance 0.221 benign 해석 →
S254L Uncertain significance 0.086 benign 해석 →
S48R Uncertain significance 0.999 pathogenic 해석 →
S72R Uncertain significance 0.982 pathogenic 해석 →
T161S Uncertain significance 0.992 pathogenic 해석 →
T165A Uncertain significance 0.837 pathogenic 해석 →
T165I Uncertain significance 0.954 pathogenic 해석 →
T190A Uncertain significance 0.063 benign 해석 →
T190P Uncertain significance 0.092 benign 해석 →
T252S Uncertain significance 0.060 benign 해석 →
V106G not provided 0.999 pathogenic 해석 →
V168I Uncertain significance 0.930 pathogenic 해석 →
V17E not provided 1.000 pathogenic 해석 →
V280M Uncertain significance 0.509 ambiguous 해석 →
W35G Uncertain significance 0.983 pathogenic 해석 →
W87* Uncertain significance — 미적재 해석 →
Y109* Uncertain significance — 미적재 해석 →
Y143* Uncertain significance — 미적재 해석 →
Y143C Uncertain significance 1.000 pathogenic 해석 →
S225I - 0.402 ambiguous 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.