C118Y (p.Cys118Tyr) variant of CEP290 (Centrosomal protein of 290 kDa)
C118Y (p.Cys118Tyr) 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.
C118Y (p.Cys118Tyr) variant details
- p.Cys118Tyr
- NCI-TCGA Cosmic COSV5835
- cosmic curated COSV58354
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available