C264F (p.Cys264Phe) variant of BBS4 (BBSome complex member BBS4)
C264F (p.Cys264Phe) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
C264F (p.Cys264Phe) variant details
- p.Cys264Phe
- rs200113494
- ClinGen CA7646770
- cosmic curated COSV51436
- ClinVar RCV000985187
- Likely pathogenic
- Bardet-Biedl syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.32
- MetaLR 0.23
- MetaSVM -0.64
- CADD 16.90
- PolyPhen-2 0.03
- SIFT 0.58
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)