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

GATA3: AM vs ClinVar 일치도

207 변이
✓ 둘 다 병원성
4
✓ 둘 다 양성
3
⚠ CV=병원성 / AM=양성
0
⚠ CV=양성 / AM=병원성
0
— AM 미적재
200
AM ↔ ClinVar 비교 가능 변이 7건 중 7건 일치 / 0건 불일치 — 일치도 100%

변이별 비교

Max 500
변이ClinVar 분류 AM 점수AM 분류 일치
A287T Conflicting classifications of pathogeni — 미적재 해석 →
C264R Conflicting classifications of pathogeni — 미적재 해석 →
C264S Pathogenic — 미적재 해석 →
C288S Likely pathogenic — 미적재 해석 →
C288W Pathogenic — 미적재 해석 →
C321S Pathogenic — 미적재 해석 →
C342Y Pathogenic — 미적재 해석 →
D278N Conflicting classifications of pathogeni — 미적재 해석 →
E263* Pathogenic — 미적재 해석 →
E46* Likely pathogenic — 미적재 해석 →
L274P Likely pathogenic — 미적재 해석 →
N320S Likely pathogenic — 미적재 해석 →
N52* Likely pathogenic — 미적재 해석 →
P354T Conflicting classifications of pathogeni — 미적재 해석 →
R276Q Pathogenic 0.998 pathogenic ✓ 해석 →
R276W Likely pathogenic 1.000 pathogenic ✓ 해석 →
R277* Conflicting classifications of pathogeni — 미적재 해석 →
R299L Conflicting classifications of pathogeni — 미적재 해석 →
R299Q Pathogenic/Likely pathogenic — 미적재 해석 →
R299W Likely pathogenic — 미적재 해석 →
R306* Pathogenic — 미적재 해석 →
R353S Pathogenic — 미적재 해석 →
R353T Likely pathogenic — 미적재 해석 →
R367* Pathogenic/Likely pathogenic — 미적재 해석 →
S142* Pathogenic — 미적재 해석 →
S166* Likely pathogenic — 미적재 해석 →
S172* Pathogenic — 미적재 해석 →
S175* Likely pathogenic — 미적재 해석 →
S213* Pathogenic — 미적재 해석 →
S271L Conflicting classifications of pathogeni — 미적재 해석 →
T272I Pathogenic — 미적재 해석 →
T421M Conflicting classifications of pathogeni — 미적재 해석 →
W112* Pathogenic — 미적재 해석 →
W275* Pathogenic — 미적재 해석 →
W275R Pathogenic — 미적재 해석 →
Y133* Pathogenic — 미적재 해석 →
Y225* Pathogenic — 미적재 해석 →
Y283* Pathogenic — 미적재 해석 →
Y345* Pathogenic — 미적재 해석 →
Y345C Likely pathogenic 0.911 pathogenic ✓ 해석 →
Y345H Likely pathogenic 0.909 pathogenic ✓ 해석 →
A146T Uncertain significance 0.068 benign 해석 →
A176T Uncertain significance 0.061 benign 해석 →
A176V Uncertain significance 0.066 benign 해석 →
A17S Uncertain significance 0.084 benign 해석 →
A207S Uncertain significance 0.061 benign 해석 →
A211P Uncertain significance 0.090 benign 해석 →
A211T Uncertain significance 0.063 benign 해석 →
A333T Uncertain significance — 미적재 해석 →
A38P Likely benign 0.053 benign ✓ 해석 →
A395V Uncertain significance 0.098 benign 해석 →
A396T Benign/Likely benign — 미적재 해석 →
A442T Uncertain significance — 미적재 해석 →
A70D Uncertain significance 0.575 pathogenic 해석 →
C264Y Uncertain significance — 미적재 해석 →
C267S Uncertain significance — 미적재 해석 →
C339Y Uncertain significance — 미적재 해석 →
C342G Uncertain significance — 미적재 해석 →
C85Y Conflicting classifications of pathogeni 0.778 pathogenic 해석 →
D160E Conflicting classifications of pathogeni 0.432 ambiguous 해석 →
D179E Uncertain significance 0.064 benign 해석 →
D37E Uncertain significance 0.125 benign 해석 →
D48N Uncertain significance 0.518 ambiguous 해석 →
E180K Uncertain significance 0.393 ambiguous 해석 →
E182G Uncertain significance 0.244 benign 해석 →
E263G Uncertain significance — 미적재 해석 →
F153L Uncertain significance 0.984 pathogenic 해석 →
F234S Uncertain significance 0.710 pathogenic 해석 →
F392L Uncertain significance — 미적재 해석 →
G125S Uncertain significance 0.058 benign 해석 →
G128E Uncertain significance 0.388 ambiguous 해석 →
G144D Uncertain significance 0.345 ambiguous 해석 →
G210E Uncertain significance 0.307 benign 해석 →
G210V Uncertain significance 0.086 benign 해석 →
G232A Uncertain significance 0.103 benign 해석 →
G242R Uncertain significance 0.624 pathogenic 해석 →
G242S Likely benign 0.072 benign ✓ 해석 →
G246A Benign/Likely benign 0.082 benign ✓ 해석 →
G246S Uncertain significance 0.065 benign 해석 →
G248R Uncertain significance 0.596 pathogenic 해석 →
G289R Uncertain significance — 미적재 해석 →
G30D Uncertain significance 0.325 benign 해석 →
G55S Uncertain significance 0.062 benign 해석 →
G57S Uncertain significance 0.074 benign 해석 →
G99S Uncertain significance 0.064 benign 해석 →
H124Q Uncertain significance 0.146 benign 해석 →
H149Q Uncertain significance 0.277 benign 해석 →
H15Q Uncertain significance 0.159 benign 해석 →
H200Y Uncertain significance 0.087 benign 해석 →
H217D Uncertain significance 0.594 pathogenic 해석 →
H282P Uncertain significance — 미적재 해석 →
H28N Conflicting classifications of pathogeni 0.135 benign 해석 →
H400R Uncertain significance — 미적재 해석 →
H415R Uncertain significance — 미적재 해석 →
H91Q Uncertain significance 0.218 benign 해석 →
I122T Uncertain significance 0.225 benign 해석 →
I53F Uncertain significance 0.207 benign 해석 →
K293E Uncertain significance — 미적재 해석 →
L103V Uncertain significance 0.069 benign 해석 →
L150I Uncertain significance 0.143 benign 해석 →
L190P Uncertain significance 0.169 benign 해석 →
L19F Uncertain significance 0.111 benign 해석 →
L348P Uncertain significance — 미적재 해석 →
L429M Uncertain significance — 미적재 해석 →
L43R Uncertain significance 0.240 benign 해석 →
L50F Uncertain significance 0.115 benign 해석 →
L90F Uncertain significance 0.130 benign 해석 →
M194R Uncertain significance 0.366 ambiguous 해석 →
M205L Uncertain significance 0.086 benign 해석 →
M369I Uncertain significance — 미적재 해석 →
M36V Uncertain significance 0.066 benign 해석 →
M401I Uncertain significance — 미적재 해석 →
M401T Uncertain significance — 미적재 해석 →
N20D Uncertain significance 0.232 benign 해석 →
N20K Uncertain significance 0.565 pathogenic 해석 →
N20S Uncertain significance 0.094 benign 해석 →
N266S Uncertain significance — 미적재 해석 →
N286K Uncertain significance — 미적재 해석 →
N320K Uncertain significance — 미적재 해석 →
N334S Uncertain significance — 미적재 해석 →
N340S Uncertain significance — 미적재 해석 →
N58S Uncertain significance 0.066 benign 해석 →
P111S Uncertain significance 0.090 benign 해석 →
P116L Uncertain significance 0.223 benign 해석 →
P155L Uncertain significance 0.957 pathogenic 해석 →
P157L Uncertain significance 0.959 pathogenic 해석 →
P158L Uncertain significance 0.943 pathogenic 해석 →
P163S Uncertain significance 0.535 ambiguous 해석 →
P165S Uncertain significance 0.118 benign 해석 →
P191L Uncertain significance 0.080 benign 해석 →
P235H Uncertain significance 0.130 benign 해석 →
P235S Uncertain significance 0.080 benign 해석 →
P235T Uncertain significance 0.097 benign 해석 →
P236A Conflicting classifications of pathogeni 0.058 benign 해석 →
P236R Uncertain significance 0.361 ambiguous 해석 →
P236S Uncertain significance 0.065 benign 해석 →
P236T Uncertain significance 0.080 benign 해석 →
P244A Uncertain significance 0.055 benign 해석 →
P24L Uncertain significance 0.121 benign 해석 →
P29L Conflicting classifications of pathogeni 0.150 benign 해석 →
P304T Uncertain significance — 미적재 해석 →
P354L Uncertain significance — 미적재 해석 →
P387A Uncertain significance — 미적재 해석 →
P422L Uncertain significance — 미적재 해석 →
P426S Uncertain significance — 미적재 해석 →
P42S Uncertain significance 0.077 benign 해석 →
P436A Uncertain significance — 미적재 해석 →
P77S Uncertain significance 0.066 benign 해석 →
P87R Uncertain significance 0.652 pathogenic 해석 →
Q178P Uncertain significance 0.053 benign 해석 →
Q297E Uncertain significance — 미적재 해석 →
Q73H Uncertain significance 0.199 benign 해석 →
Q73R Uncertain significance 0.275 benign 해석 →
R177Q Uncertain significance 0.099 benign 해석 →
R202C Uncertain significance 0.160 benign 해석 →
R202H Uncertain significance 0.111 benign 해석 →
R252G Uncertain significance 0.600 pathogenic 해석 →
R256G Uncertain significance 0.643 pathogenic 해석 →
R256W Uncertain significance 0.810 pathogenic 해석 →
R276L Uncertain significance 0.999 pathogenic 해석 →
R277Q Uncertain significance — 미적재 해석 →
R313I Uncertain significance — 미적재 해석 →
R353K Uncertain significance — 미적재 해석 →
R367Q Uncertain significance — 미적재 해석 →
R69G Uncertain significance 0.332 benign 해석 →
R86C Uncertain significance 0.422 ambiguous 해석 →
R86H Uncertain significance 0.269 benign 해석 →
S175L Uncertain significance 0.075 benign 해석 →
S193G Uncertain significance 0.057 benign 해석 →
S214T Uncertain significance 0.069 benign 해석 →
S230T Uncertain significance 0.078 benign 해석 →
S231P Uncertain significance 0.094 benign 해석 →
S371R Uncertain significance — 미적재 해석 →
S408L Uncertain significance — 미적재 해석 →
S414G Uncertain significance — 미적재 해석 →
S430A Uncertain significance — 미적재 해석 →
T108A Uncertain significance 0.053 benign 해석 →
T120M Conflicting classifications of pathogeni 0.122 benign 해석 →
T152P Uncertain significance 0.088 benign 해석 →
T221I Uncertain significance 0.462 ambiguous 해석 →
T280A Uncertain significance — 미적재 해석 →
T418I Uncertain significance 0.578 pathogenic 해석 →
T419M Uncertain significance — 미적재 해석 →
T421A Uncertain significance — 미적재 해석 →
T4A Uncertain significance 0.063 benign 해석 →
T78I Uncertain significance 0.138 benign 해석 →
T78N Uncertain significance 0.090 benign 해석 →
V132D Uncertain significance 0.808 pathogenic 해석 →
V132L Uncertain significance 0.218 benign 해석 →
V188L Uncertain significance 0.131 benign 해석 →
V18G Uncertain significance 0.173 benign 해석 →
V18M Uncertain significance 0.108 benign 해석 →
V226M Uncertain significance 0.136 benign 해석 →
V338A Uncertain significance — 미적재 해석 →
V379M Uncertain significance — 미적재 해석 →
V3A Uncertain significance 0.189 benign 해석 →
V72A Uncertain significance 0.232 benign 해석 →
V84L Uncertain significance 0.438 ambiguous 해석 →
W10G Uncertain significance 0.678 pathogenic 해석 →
Y222N Uncertain significance 0.687 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.