Q67R (p.Gln67Arg) variant of ATXN2 (Ataxin-2)
Q67R (p.Gln67Arg) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data.
Q67R (p.Gln67Arg) variant details
- p.Gln67Arg
- TOPMed rs1354881591
- gnomAD rs1354881591
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- CADD 15.70
- Most common in the 1KG:CLM population (allele frequency 0.0053)