E4K (p.Glu4Lys) variant of BBS4 (BBSome complex member BBS4)
E4K (p.Glu4Lys) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- rs1336636537
- ClinGen CA393075010
- ClinVar RCV001914494
- gnomAD rs1336636537
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.25
- MetaLR 0.21
- MetaSVM -0.87
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)