E47* (p.Glu47Ter) variant of EYS (Protein eyes shut homolog)
E47* (p.Glu47Ter) in EYS (Protein eyes shut homolog) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact.
E47* (p.Glu47Ter) variant details
- p.Glu47Ter
- NCI-TCGA Cosmic COSV6098
- cosmic curated COSV60984
- NCI-TCGA Cosmic COSV6099
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.