A47V (p.Ala47Val) variant of APOE (Apolipoprotein E)
A47V (p.Ala47Val) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A47V (p.Ala47Val) variant details
- p.Ala47Val
- gnomAD 19-44907856-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.47
- CADD 18.60
- PolyPhen-2 0.05
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available