A6V (p.Ala6Val) variant of APOA5 (Apolipoprotein A-V)
A6V (p.Ala6Val) in APOA5 (Apolipoprotein A-V) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- cosmic curated COSV10584
- ExAC rs779809358
- gnomAD rs779809358
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.14
- CADD 13.30
- PolyPhen-2 0.02
- SIFT 0.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available