S161C (p.Ser161Cys) variant of ATXN3 (Ataxin-3)
S161C (p.Ser161Cys) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data.
S161C (p.Ser161Cys) variant details
- p.Ser161Cys
- 1000Genomes rs200118135
- ExAC rs200118135
- TOPMed rs200118135
- gnomAD rs200118135
- Missense
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 29.10
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)