Q119L (p.Gln119Leu) variant of CEP290 (Centrosomal protein of 290 kDa)
Q119L (p.Gln119Leu) 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.
Q119L (p.Gln119Leu) variant details
- p.Gln119Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available