G78S (p.Gly78Ser) variant of ATXN2 (Ataxin-2)
G78S (p.Gly78Ser) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G78S (p.Gly78Ser) variant details
- p.Gly78Ser
- TOPMed rs1374016546
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- CADD 24.90
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available