P170S (p.Pro170Ser) variant of ATXN3 (Ataxin-3)
P170S (p.Pro170Ser) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data.
P170S (p.Pro170Ser) variant details
- p.Pro170Ser
- ExAC rs749523391
- TOPMed rs749523391
- gnomAD rs749523391
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)