E50K (p.Glu50Lys) variant of ATXN3 (Ataxin-3)
E50K (p.Glu50Lys) in ATXN3 (Ataxin-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10051
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.