E16G (p.Glu16Gly) variant of ATXN2 (Ataxin-2)
E16G (p.Glu16Gly) in ATXN2 (Ataxin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- TOPMed rs992476955
- gnomAD rs992476955
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 17.90
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)