A45G (p.Ala45Gly) variant of ATXN2 (Ataxin-2)
A45G (p.Ala45Gly) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
A45G (p.Ala45Gly) variant details
- p.Ala45Gly
- 1000Genomes rs1402668980
- TOPMed rs1402668980
- gnomAD rs1402668980
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- CADD 0.82
- Most common in the REMAINING population (allele frequency 1.7e-05)