D17N (p.Asp17Asn) variant of CEP290 (Centrosomal protein of 290 kDa)
D17N (p.Asp17Asn) 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.
D17N (p.Asp17Asn) variant details
- p.Asp17Asn
- NCI-TCGA Cosmic COSV9989
- cosmic curated COSV99898
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available