A46D (p.Ala46Asp) variant of ATXN2 (Ataxin-2)
A46D (p.Ala46Asp) 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.
A46D (p.Ala46Asp) variant details
- p.Ala46Asp
- 1000Genomes rs770648742
- ExAC rs770648742
- gnomAD rs770648742
- Missense
- Variant Prioritization Score for Impact Estimate 0.0814
- CADD 0.15
- Most common in the Middle Eastern population (allele frequency 0.0007)