E158K (p.Glu158Lys) variant of ATXN3 (Ataxin-3)
E158K (p.Glu158Lys) 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.
E158K (p.Glu158Lys) variant details
- p.Glu158Lys
- cosmic curated COSV61495
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance