Q64* (p.Gln64Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
Q64* (p.Gln64Ter) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
Q64* (p.Gln64Ter) variant details
- p.Gln64Ter
- rs1166981120
- ClinGen CA385989437
- ClinVar RCV001972739
- gnomAD rs1166981120
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.862
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: Joubert Syndrome. (PMID 20301500)
- Cited in: Clinical utility gene card for: Joubert syndrome. (PMID 21448235)