E173K (p.Glu173Lys) variant of ATXN3 (Ataxin-3)
E173K (p.Glu173Lys) in ATXN3 (Ataxin-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
E173K (p.Glu173Lys) variant details
- p.Glu173Lys
- ExAC rs750538982
- TOPMed rs750538982
- gnomAD rs750538982
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- CADD 23.20
- PolyPhen-2 0.11
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)