G78D (p.Gly78Asp) variant of ATXN2 (Ataxin-2)
G78D (p.Gly78Asp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G78D (p.Gly78Asp) variant details
- p.Gly78Asp
- TOPMed rs1448276219
- Missense
- Variant Prioritization Score for Impact Estimate 0.508
- CADD 24.90
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available