V13G (p.Val13Gly) variant of ATXN2 (Ataxin-2)
V13G (p.Val13Gly) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
V13G (p.Val13Gly) variant details
- p.Val13Gly
- TOPMed rs1429950459
- gnomAD rs1429950459
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- CADD 15.40
- Most common in the HGDP:FRENCH population (allele frequency 0.019)