R359P (p.Arg359Pro) variant of BBS1 (BBSome complex member BBS1)
R359P (p.Arg359Pro) in BBS1 (BBSome complex member BBS1) 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 0.31 / 1. The record also includes published literature and structural context.
R359P (p.Arg359Pro) variant details
- p.Arg359Pro
- rs147766972
- ClinGen CA381462646
- ClinVar RCV003222534
- Likely pathogenic
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- AlphaMissense 0.06
- MetaLR 0.12
- MetaSVM -1.02
- PolyPhen-2 0.04
- SIFT 0.22
- EVE 0.23
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)