R33Q (p.Arg33Gln) variant of ATXN2 (Ataxin-2)
R33Q (p.Arg33Gln) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- TOPMed rs1246856233
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 17.90
- Most common in the 1KG:MXL population (allele frequency 0.0081)