R88Q (p.Arg88Gln) variant of ATXN2 (Ataxin-2)
R88Q (p.Arg88Gln) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- TOPMed rs1366993433
- gnomAD rs1366993433
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 23.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available