R151* (p.Arg151Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
R151* (p.Arg151Ter) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R151* (p.Arg151Ter) variant details
- p.Arg151Ter
- rs757641323
- ClinGen CA6712782
- ClinVar RCV000414162
- ClinVar RCV000552078
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 42.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 3e-05)
- 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)