A53V (p.Ala53Val) variant of ATXN2 (Ataxin-2)
A53V (p.Ala53Val) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- TOPMed rs1253800220
- gnomAD rs1253800220
- Missense
- Variant Prioritization Score for Impact Estimate 0.639
- CADD 22.60
- Most common in the HGDP:YAKUT population (allele frequency 0.04)