S55N (p.Ser55Asn) variant of ATXN3 (Ataxin-3)
S55N (p.Ser55Asn) 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.
S55N (p.Ser55Asn) variant details
- p.Ser55Asn
- ExAC rs771098090
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- CADD 22.60
- PolyPhen-2 0.41
- SIFT 0.03
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)