E46D (p.Glu46Asp) variant of CEP290 (Centrosomal protein of 290 kDa)
E46D (p.Glu46Asp) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
E46D (p.Glu46Asp) variant details
- p.Glu46Asp
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57122
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available