A7V (p.Ala7Val) variant of APOE (Apolipoprotein E)
A7V (p.Ala7Val) in APOE (Apolipoprotein E) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- ExAC rs754318486
- TOPMed rs754318486
- gnomAD rs754318486
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.18
- CADD 5.39
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available