R5T (p.Arg5Thr) variant of BBS4 (BBSome complex member BBS4)
R5T (p.Arg5Thr) 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 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R5T (p.Arg5Thr) variant details
- p.Arg5Thr
- rs1307094685
- ClinGen CA393075035
- ClinVar RCV001929620
- gnomAD rs1307094685
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.14
- MetaLR 0.10
- MetaSVM -1.05
- CADD 1.17
- PolyPhen-2 0.00
- SIFT 0.65
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- 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)