R22W (p.Arg22Trp) variant of BBS4 (BBSome complex member BBS4)
R22W (p.Arg22Trp) 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 not provided; Bardet-Biedl syndrome; Bardet-Biedl syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
R22W (p.Arg22Trp) variant details
- p.Arg22Trp
- rs727503820
- ClinGen CA233515
- ClinVar RCV000152837
- ClinVar RCV001246608
- Uncertain significance
- not provided; Bardet-Biedl syndrome; Bardet-Biedl syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.09
- MetaLR 0.13
- MetaSVM -0.98
- CADD 16.90
- PolyPhen-2 0.29
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Bardet-Biedl syndrome; Bardet-Biedl syndrome 4)
- 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)