E16V (p.Glu16Val) variant of ATXN2 (Ataxin-2)
E16V (p.Glu16Val) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data.
E16V (p.Glu16Val) variant details
- p.Glu16Val
- TOPMed rs992476955
- gnomAD rs992476955
- Missense
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 17.40
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)