Q35* (p.Gln35Ter) variant of BBS4 (BBSome complex member BBS4)
Q35* (p.Gln35Ter) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Q35* (p.Gln35Ter) variant details
- p.Gln35Ter
- rs2542931886
- ClinGen CA393075806
- ClinVar RCV003465092
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 36.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)