E97* (p.Glu97Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
E97* (p.Glu97Ter) 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 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
E97* (p.Glu97Ter) variant details
- p.Glu97Ter
- rs386834153
- ClinGen CA144391
- ClinVar RCV000050147
- ClinVar RCV001053674
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 39.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)