S55R (p.Ser55Arg) variant of ATXN3 (Ataxin-3)
S55R (p.Ser55Arg) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
S55R (p.Ser55Arg) variant details
- p.Ser55Arg
- ExAC rs747089043
- gnomAD rs747089043
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- CADD 23.20
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)