F29V (p.Phe29Val) variant of BBS4 (BBSome complex member BBS4)
F29V (p.Phe29Val) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
F29V (p.Phe29Val) variant details
- p.Phe29Val
- rs1343702152
- ClinGen CA393075764
- ClinVar RCV002301557
- gnomAD rs1343702152
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -1.04
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.06
- 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)