R22Q (p.Arg22Gln) variant of BBS4 (BBSome complex member BBS4)
R22Q (p.Arg22Gln) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs775955872
- ClinGen CA7646460
- ClinVar RCV001316446
- ClinVar RCV002504488
- Uncertain significance
- Bardet-Biedl syndrome 4; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0911
- REVEL 0.01
- MetaLR 0.08
- MetaSVM -1.04
- CADD 6.20
- PolyPhen-2 0.00
- SIFT 0.15
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 4; Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)