A46V (p.Ala46Val) variant of ATXN2 (Ataxin-2)
A46V (p.Ala46Val) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- 1000Genomes rs770648742
- ExAC rs770648742
- gnomAD rs770648742
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.23
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)