G48E (p.Gly48Glu) variant of ATXN2 (Ataxin-2)
G48E (p.Gly48Glu) in ATXN2 (Ataxin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data.
G48E (p.Gly48Glu) variant details
- p.Gly48Glu
- TOPMed rs1216505971
- gnomAD rs1216505971
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- CADD 10.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)