A86V (p.Ala86Val) variant of ATXN2 (Ataxin-2)
A86V (p.Ala86Val) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data.
A86V (p.Ala86Val) variant details
- p.Ala86Val
- gnomAD rs1037925868
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- CADD 15.60
- Most common in the 1KG:MXL population (allele frequency 0.0081)