E72* (p.Glu72Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
E72* (p.Glu72Ter) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
E72* (p.Glu72Ter) variant details
- p.Glu72Ter
- rs1292246271
- ClinGen CA385989259
- ClinVar RCV003041166
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)