G42D (p.Gly42Asp) variant of ATXN2 (Ataxin-2)
G42D (p.Gly42Asp) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- TOPMed rs1253427273
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 16.90
- Most common in the African/African-American population (allele frequency 0.00041)