S55G (p.Ser55Gly) variant of ATXN3 (Ataxin-3)
S55G (p.Ser55Gly) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data.
S55G (p.Ser55Gly) variant details
- p.Ser55Gly
- gnomAD rs1419185217
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- CADD 25.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)