R36L (p.Arg36Leu) variant of ATXN2 (Ataxin-2)
R36L (p.Arg36Leu) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
R36L (p.Arg36Leu) variant details
- p.Arg36Leu
- TOPMed rs1265858055
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 12.90
- Most common in the REMAINING population (allele frequency 0.00048)