Q23* (p.Gln23Ter) variant of BBS4 (BBSome complex member BBS4)
Q23* (p.Gln23Ter) in BBS4 (BBSome complex member BBS4) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
Q23* (p.Gln23Ter) variant details
- p.Gln23Ter
- rs2542892241
- ClinGen CA393075570
- ClinVar RCV002740200
- ClinVar RCV004571215
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)