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

PSEN2: AM vs ClinVar 일치도

164 변이
✓ 둘 다 병원성
7
✓ 둘 다 양성
6
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
1
— AM 미적재
150
AM ↔ ClinVar 비교 가능 변이 14건 중 13건 일치 / 1건 불일치 — 일치도 92.9%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A85V Pathogenic 0.966 pathogenic ✓ 해석 →
D439A Uncertain significance 0.767 pathogenic 해석 →
L238F Conflicting classifications of pathogeni 0.868 pathogenic 해석 →
M239I Pathogenic 0.984 pathogenic ✓ 해석 →
M239V Pathogenic 0.666 pathogenic ✓ 해석 →
N141I Pathogenic 0.976 pathogenic ✓ 해석 →
R284G Conflicting classifications of pathogeni 0.996 pathogenic 해석 →
S130L Benign/Likely benign 0.159 benign ✓ 해석 →
S175F Pathogenic 0.976 pathogenic ✓ 해석 →
T122P Pathogenic/Likely pathogenic 0.918 pathogenic ✓ 해석 →
T122R Pathogenic 0.970 pathogenic ✓ 해석 →
T430M Uncertain significance 0.862 pathogenic 해석 →
V150M Conflicting classifications of pathogeni 0.159 benign 해석 →
A237V Uncertain significance 0.912 pathogenic 해석 →
A252T Conflicting classifications of pathogeni 0.137 benign 해석 →
A258D Uncertain significance 0.986 pathogenic 해석 →
A258T Uncertain significance 0.169 benign 해석 →
A281D Uncertain significance 1.000 pathogenic 해석 →
A291V Uncertain significance 0.990 pathogenic 해석 →
A377V Uncertain significance 0.811 pathogenic 해석 →
A390S Uncertain significance 0.411 ambiguous 해석 →
A412V Uncertain significance 0.987 pathogenic 해석 →
A415T Uncertain significance 0.998 pathogenic 해석 →
A6T Uncertain significance 0.083 benign 해석 →
C65Y Uncertain significance 0.085 benign 해석 →
D127N Uncertain significance 0.080 benign 해석 →
D384Y Uncertain significance 0.975 pathogenic 해석 →
D55E Uncertain significance 0.072 benign 해석 →
E54D Benign/Likely benign 0.068 benign ✓ 해석 →
F211V Uncertain significance 0.718 pathogenic 해석 →
F243L Uncertain significance 0.996 pathogenic 해석 →
F331S Uncertain significance 0.088 benign 해석 →
F392I Uncertain significance 0.845 pathogenic 해석 →
F422L Uncertain significance 0.972 pathogenic 해석 →
F92L Uncertain significance 0.995 pathogenic 해석 →
G117R Uncertain significance 0.556 ambiguous 해석 →
G132V Uncertain significance 0.280 benign 해석 →
G189A Uncertain significance 0.143 benign 해석 →
G257S Uncertain significance 0.291 benign 해석 →
G313A Uncertain significance 0.100 benign 해석 →
G313S Uncertain significance 0.100 benign 해석 →
G349E Uncertain significance 0.084 benign 해석 →
G34S Conflicting classifications of pathogeni 0.077 benign 해석 →
G34V Uncertain significance 0.072 benign 해석 →
G383E Uncertain significance 0.386 ambiguous 해석 →
G56S Conflicting classifications of pathogeni 0.067 benign 해석 →
G70R Conflicting classifications of pathogeni 0.124 benign 해석 →
G84R Uncertain significance 0.988 pathogenic 해석 →
H169N Benign/Likely benign 0.467 ambiguous 해석 →
H169R Uncertain significance 0.651 pathogenic 해석 →
H444Y Uncertain significance 0.171 benign 해석 →
H87L Uncertain significance 0.920 pathogenic 해석 →
H87R Uncertain significance 0.955 pathogenic 해석 →
H87R Uncertain significance 0.955 pathogenic 해석 →
I100V Uncertain significance 0.049 benign 해석 →
I120S Uncertain significance 0.895 pathogenic 해석 →
I146F Uncertain significance 0.477 ambiguous 해석 →
I168V Uncertain significance 0.919 pathogenic 해석 →
I233V Uncertain significance 0.321 benign 해석 →
I288M Uncertain significance 0.844 pathogenic 해석 →
I293L Uncertain significance 0.844 pathogenic 해석 →
I397T Uncertain significance 0.471 ambiguous 해석 →
I420M Uncertain significance 0.867 pathogenic 해석 →
K161R Uncertain significance 0.132 benign 해석 →
K222T Uncertain significance 0.828 pathogenic 해석 →
K271R Uncertain significance 0.065 benign 해석 →
K410R Uncertain significance 0.062 benign 해석 →
K82T Uncertain significance 0.884 pathogenic 해석 →
L143F Uncertain significance 0.076 benign 해석 →
L180P Uncertain significance 0.997 pathogenic 해석 →
L238P Uncertain significance 0.998 pathogenic 해석 →
L2F Uncertain significance 0.077 benign 해석 →
L399F Uncertain significance 0.994 pathogenic 해석 →
L79P Uncertain significance 0.705 pathogenic 해석 →
L81F Uncertain significance 0.905 pathogenic 해석 →
L81V Uncertain significance 0.757 pathogenic 해석 →
M174V Benign/Likely benign 0.086 benign ✓ 해석 →
M1R Uncertain significance 0.644 pathogenic 해석 →
M298T Uncertain significance 0.865 pathogenic 해석 →
M5I Uncertain significance 0.447 ambiguous 해석 →
N116K Uncertain significance 0.341 ambiguous 해석 →
N137S Uncertain significance 0.101 benign 해석 →
N141D Uncertain significance 0.972 pathogenic 해석 →
N285S Uncertain significance 0.319 benign 해석 →
N432H Uncertain significance 0.081 benign 해석 →
P123L Uncertain significance 0.942 pathogenic 해석 →
P224L Uncertain significance 0.982 pathogenic 해석 →
P28L Uncertain significance 0.070 benign 해석 →
P28T Uncertain significance 0.065 benign 해석 →
P309H Uncertain significance 0.102 benign 해석 →
P334R Uncertain significance 0.112 benign 해석 →
P337S Uncertain significance 0.082 benign 해석 →
P342S Uncertain significance 0.081 benign 해석 →
P348L Uncertain significance 0.079 benign 해석 →
P414S Uncertain significance 1.000 pathogenic 해석 →
P436L Uncertain significance 0.943 pathogenic 해석 →
P69A Conflicting classifications of pathogeni 0.059 benign 해석 →
P72L Uncertain significance 0.065 benign 해석 →
P73S Uncertain significance 0.066 benign 해석 →
P94R Uncertain significance 1.000 pathogenic 해석 →
Q228L Uncertain significance 0.971 pathogenic 해석 →
Q50R Conflicting classifications of pathogeni 0.058 benign 해석 →
R110C Uncertain significance 0.247 benign 해석 →
R134H Uncertain significance 0.419 ambiguous 해석 →
R163C Uncertain significance 0.852 pathogenic 해석 →
R17Q Uncertain significance 0.170 benign 해석 →
R17W Uncertain significance 0.428 ambiguous 해석 →
R29C Uncertain significance 0.081 benign 해석 →
R35S Uncertain significance 0.132 benign 해석 →
R435Q Uncertain significance 0.057 benign 해석 →
R435W Likely benign 0.370 ambiguous 해석 →
R62C Uncertain significance 0.077 benign 해석 →
R62H Benign/Likely benign 0.063 benign ✓ 해석 →
R71W Benign/Likely benign 0.088 benign ✓ 해석 →
S22L Uncertain significance 0.124 benign 해석 →
S295P Uncertain significance 0.999 pathogenic 해석 →
S30F Uncertain significance 0.083 benign 해석 →
S310P Uncertain significance 0.095 benign 해석 →
S330T Uncertain significance 0.073 benign 해석 →
S382I Uncertain significance 0.279 benign 해석 →
S49R Uncertain significance 0.108 benign 해석 →
S49R Uncertain significance 0.108 benign 해석 →
S7P Uncertain significance 0.417 ambiguous 해석 →
S9G Uncertain significance 0.129 benign 해석 →
T105I Uncertain significance 0.984 pathogenic 해석 →
T18M Uncertain significance 0.302 benign 해석 →
T27M Uncertain significance 0.071 benign 해석 →
T301M Uncertain significance 0.088 benign 해석 →
T380K Conflicting classifications of pathogeni 0.323 benign 해석 →
T380M Uncertain significance 0.139 benign 해석 →
T387I Uncertain significance 0.888 pathogenic 해석 →
T388M Likely benign 0.571 pathogenic ⚠ 해석 →
T3K Uncertain significance 0.224 benign 해석 →
T421M Uncertain significance 0.147 benign 해석 →
T430A Uncertain significance 0.695 pathogenic 해석 →
V102A Uncertain significance 0.960 pathogenic 해석 →
V103I Uncertain significance 0.138 benign 해석 →
V139M Conflicting classifications of pathogeni 0.097 benign 해석 →
V13A Uncertain significance 0.075 benign 해석 →
V148I Uncertain significance 0.123 benign 해석 →
V197M Uncertain significance 0.134 benign 해석 →
V208I Uncertain significance 0.068 benign 해석 →
V214L Benign/Likely benign 0.500 ambiguous 해석 →
V261L Likely benign 0.124 benign ✓ 해석 →
V265M Uncertain significance 0.105 benign 해석 →
V302F Uncertain significance 0.279 benign 해석 →
V360M Uncertain significance 0.945 pathogenic 해석 →
V393M Uncertain significance 0.621 pathogenic 해석 →
V434L Uncertain significance 0.757 pathogenic 해석 →
V68A Uncertain significance 0.077 benign 해석 →
V88M Uncertain significance 0.962 pathogenic 해석 →
V93M Uncertain significance 0.288 benign 해석 →
W253R Uncertain significance 1.000 pathogenic 해석 →
W47* Uncertain significance — 미적재 해석 →
W47G Uncertain significance 0.078 benign 해석 →
Y121C Uncertain significance 0.953 pathogenic 해석 →
Y195C Uncertain significance 0.265 benign 해석 →
Y294D Uncertain significance 1.000 pathogenic 해석 →
Y319C Uncertain significance 0.068 benign 해석 →
Y63C Uncertain significance 0.084 benign 해석 →
E324* - — 미적재 해석 →
G303S - 0.119 benign 해석 →
H87Q - 0.892 pathogenic 해석 →
K410* - — 미적재 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.