Q119* (p.Gln119Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
Q119* (p.Gln119Ter) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q119* (p.Gln119Ter) variant details
- p.Gln119Ter
- rs2138215835
- ClinGen CA385987566
- ClinVar RCV001384356
- Ensembl rs2138215835
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.741
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)