R45W (p.Arg45Trp) variant of BBS4 (BBSome complex member BBS4)
R45W (p.Arg45Trp) 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 4; Bardet-Biedl syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R45W (p.Arg45Trp) variant details
- p.Arg45Trp
- rs760345612
- ClinGen CA7646507
- ClinVar RCV002695346
- ClinVar RCV004749947
- Uncertain significance
- Bardet-Biedl syndrome 4; Bardet-Biedl syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.30
- MetaLR 0.34
- MetaSVM -0.28
- CADD 28.30
- PolyPhen-2 0.97
- SIFT 0.04
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 4; Bardet-Biedl syndrome; Inborn genetic d)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)