Q56* (p.Gln56Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
Q56* (p.Gln56Ter) 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.
Q56* (p.Gln56Ter) variant details
- p.Gln56Ter
- rs1592706963
- ClinGen CA385989775
- ClinVar RCV000823106
- Ensembl rs1592706963
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.873
- CADD 41.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)