R108* (p.Arg108Ter) variant of CEP290 (Centrosomal protein of 290 kDa)
R108* (p.Arg108Ter) 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 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R108* (p.Arg108Ter) variant details
- p.Arg108Ter
- rs1290241933
- ClinGen CA385987715
- ClinVar RCV000810939
- ClinVar RCV001030763
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Joubert Syndrome. (PMID 20301500)