A50V (p.Ala50Val) variant of APOA5 (Apolipoprotein A-V)
A50V (p.Ala50Val) 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.
A50V (p.Ala50Val) variant details
- p.Ala50Val
- cosmic curated COSV57062
- ExAC rs748972080
- gnomAD rs748972080
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.07
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available