E36* (p.Glu36Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
E36* (p.Glu36Ter) in CEP290 (Centrosomal protein of 290 kDa) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
E36* (p.Glu36Ter) variant details
- p.Glu36Ter
- rs868347260
- ClinGen CA241168621
- ClinVar RCV003783595
- TOPMed rs868347260
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.752
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)