G50S (p.Gly50Ser) variant of APOA1 (Apolipoprotein A-I)
G50S (p.Gly50Ser) in APOA1 (Apolipoprotein A-I) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G50S (p.Gly50Ser) variant details
- p.Gly50Ser
- rs28931574
- ClinGen CA6289883
- ClinVar RCV002389666
- ClinVar RCV005097548
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.52
- AlphaMissense 0.12
- MetaLR 0.48
- MetaSVM -0.00
- CADD 22.20
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Pathogenic (in AMYLD3)
- UniProt: Pathogenic (in AMYLD3)
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available