E16K (p.Glu16Lys) variant of ATXN2 (Ataxin-2)
E16K (p.Glu16Lys) 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 0.25 / 1. The record also includes population frequency data.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- TOPMed rs1419713183
- gnomAD rs1419713183
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 13.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)