R277K (p.Arg277Lys) variant of BBS1 (BBSome complex member BBS1)
R277K (p.Arg277Lys) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bardet-Biedl syndrome 1; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
R277K (p.Arg277Lys) variant details
- p.Arg277Lys
- rs1856209517
- ClinGen CA381459651
- cosmic curated COSV10518
- ClinVar RCV001388588
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome 1; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- REVEL 0.50
- CADD 33.00
- PolyPhen-2 0.26
- SIFT 0.13
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome 1; Bardet-Biedl syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)