E22K (p.Glu22Lys) variant of CEP290 (Centrosomal protein of 290 kDa)
E22K (p.Glu22Lys) 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.
E22K (p.Glu22Lys) variant details
- p.Glu22Lys
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57124
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available