S17C (p.Ser17Cys) variant of ATXN2 (Ataxin-2)
S17C (p.Ser17Cys) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- TOPMed rs959774570
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 17.10
- Most common in the 1KG:MSL population (allele frequency 0.013)