E23* (p.Glu23Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
E23* (p.Glu23Ter) 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.
E23* (p.Glu23Ter) variant details
- p.Glu23Ter
- NCI-TCGA Cosmic COSV9989
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available