R9Q (p.Arg9Gln) variant of ATXN2 (Ataxin-2)
R9Q (p.Arg9Gln) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- TOPMed rs1441710563
- gnomAD rs1441710563
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 2.76
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)