Q11E (p.Gln11Glu) variant of BBS4 (BBSome complex member BBS4)
Q11E (p.Gln11Glu) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q11E (p.Gln11Glu) variant details
- p.Gln11Glu
- rs1040144478
- ClinGen CA393075498
- ClinVar RCV001895571
- TOPMed rs1040144478
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.29
- MetaLR 0.19
- MetaSVM -0.93
- CADD 4.70
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)