F52L (p.Phe52Leu) variant of CEP290 (Centrosomal protein of 290 kDa)
F52L (p.Phe52Leu) 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.
F52L (p.Phe52Leu) variant details
- p.Phe52Leu
- NCI-TCGA TCGA novel
- TOPMed rs1169026059
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available