G59A (p.Gly59Ala) variant of ATXN2 (Ataxin-2)
G59A (p.Gly59Ala) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
G59A (p.Gly59Ala) variant details
- p.Gly59Ala
- cosmic curated COSV10891
- gnomAD rs1885144467
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 19.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)