R45Q (p.Arg45Gln) variant of BBS4 (BBSome complex member BBS4)
R45Q (p.Arg45Gln) 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; Bardet-Biedl syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
R45Q (p.Arg45Gln) variant details
- p.Arg45Gln
- rs1050164962
- ClinGen CA272633189
- NCI-TCGA Cosmic COSV5143
- ClinVar RCV001051434
- Uncertain significance
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -1.03
- CADD 22.70
- PolyPhen-2 0.09
- SIFT 0.36
- ClinVar: Uncertain significance (Bardet-Biedl syndrome; Bardet-Biedl syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)