E2K (p.Glu2Lys) variant of ATXN3 (Ataxin-3)
E2K (p.Glu2Lys) in ATXN3 (Ataxin-3) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- NCI-TCGA Cosmic COSV6149
- cosmic curated COSV61493
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.