S91S (p.Ser91Ser) variant of ATXN2 (Ataxin-2)
S91S (p.Ser91Ser) in ATXN2 (Ataxin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S91S (p.Ser91Ser) variant details
- p.Ser91Ser
- rs749706608
- gnomAD 12-111453630-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.39
- CADD 20.50
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available
- Literature evidence available