E4Q (p.Glu4Gln) variant of BBS4 (BBSome complex member BBS4)
E4Q (p.Glu4Gln) 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 record also includes variant effect predictions, published literature, and structural context.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- rs1336636537
- ClinGen CA393075012
- ClinVar RCV002838977
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- MutPred 0.32
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)