G142R (p.Gly142Arg) variant of BBS4 (BBSome complex member BBS4)
G142R (p.Gly142Arg) in BBS4 (BBSome complex member BBS4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
G142R (p.Gly142Arg) variant details
- p.Gly142Arg
- rs1595935759
- ClinGen CA393075649
- ClinVar RCV001002880
- Ensembl rs1595935759
- Likely pathogenic
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- MutPred 0.78
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)