A149E (p.Ala149Glu) variant of ATXN3 (Ataxin-3)
A149E (p.Ala149Glu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data.
A149E (p.Ala149Glu) variant details
- p.Ala149Glu
- ExAC rs750717644
- gnomAD rs750717644
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- CADD 24.40
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)