R9W (p.Arg9Trp) variant of ATXN2 (Ataxin-2)
R9W (p.Arg9Trp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data.
R9W (p.Arg9Trp) variant details
- p.Arg9Trp
- TOPMed rs1331860750
- gnomAD rs1331860750
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- CADD 22.60
- Most common in the REMAINING population (allele frequency 0.00048)