G52E (p.Gly52Glu) variant of ATXN3 (Ataxin-3)
G52E (p.Gly52Glu) in ATXN3 (Ataxin-3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data.
G52E (p.Gly52Glu) variant details
- p.Gly52Glu
- gnomAD rs1476630614
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- CADD 24.90
- PolyPhen-2 0.86
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)