S35A (p.Ser35Ala) variant of ATXN3 (Ataxin-3)
S35A (p.Ser35Ala) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S35A (p.Ser35Ala) variant details
- p.Ser35Ala
- gnomAD rs1428811774
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- CADD 22.70
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available