E137A (p.Glu137Ala) variant of CEP290 (Centrosomal protein of 290 kDa)
E137A (p.Glu137Ala) 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.
E137A (p.Glu137Ala) variant details
- p.Glu137Ala
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10046
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available