R24T (p.Arg24Thr) variant of ATXN2 (Ataxin-2)
R24T (p.Arg24Thr) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
R24T (p.Arg24Thr) variant details
- p.Arg24Thr
- TOPMed rs969300734
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 15.80
- Most common in the REMAINING population (allele frequency 0.00048)