E65* (p.Glu65Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
E65* (p.Glu65Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E65* (p.Glu65Ter) variant details
- p.Glu65Ter
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57122
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available