E1568D (p.Glu1568Asp) variant of CEP290 (Centrosomal protein of 290 kDa)
E1568D (p.Glu1568Asp) in CEP290 (Centrosomal protein of 290 kDa) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Joubert syndrome 1. The record also includes variant effect predictions, published literature, and structural context.
E1568D (p.Glu1568Asp) variant details
- p.Glu1568Asp
- rs1592836704
- ClinGen CA385994330
- ClinVar RCV000988882
- TOPMed rs1592836704
- Likely pathogenic
- Joubert syndrome 1
- Missense
- MutPred 0.11
- ClinVar: Likely pathogenic (Joubert syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)