A82V (p.Ala82Val) variant of APOA5 (Apolipoprotein A-V)
A82V (p.Ala82Val) in APOA5 (Apolipoprotein A-V) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
A82V (p.Ala82Val) variant details
- p.Ala82Val
- TOPMed rs1940999844
- Uncertain significance
- Cardiovascular phenotype; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.11
- CADD 10.50
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (Cardiovascular phenotype; not provided)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available