E4* (p.Glu4Ter) variant of BBS4 (BBSome complex member BBS4)
E4* (p.Glu4Ter) 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 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- rs1336636537
- ClinGen CA393075014
- ClinVar RCV002624712
- ClinVar RCV003459766
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 50.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- 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)