N115S (p.Asn115Ser) variant of ATXN3 (Ataxin-3)
N115S (p.Asn115Ser) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data.
N115S (p.Asn115Ser) variant details
- p.Asn115Ser
- Ensembl rs2064319132
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)