G90S (p.Gly90Ser) variant of ATXN2 (Ataxin-2)
G90S (p.Gly90Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G90S (p.Gly90Ser) variant details
- p.Gly90Ser
- 1000Genomes rs1885134947
- TOPMed rs1885134947
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- CADD 17.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available