A46G (p.Ala46Gly) variant of ATXN2 (Ataxin-2)
A46G (p.Ala46Gly) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data.
A46G (p.Ala46Gly) variant details
- p.Ala46Gly
- 1000Genomes rs770648742
- ExAC rs770648742
- gnomAD rs770648742
- Missense
- Variant Prioritization Score for Impact Estimate 0.0803
- CADD 0.03
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)