Q123* (p.Gln123Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
Q123* (p.Gln123Ter) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q123* (p.Gln123Ter) variant details
- p.Gln123Ter
- rs770126103
- ClinGen CA6712821
- ClinVar RCV001058714
- ClinVar RCV001832529
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.846
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 0.00013)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)