R67C (p.Arg67Cys) variant of BBS1 (BBSome complex member BBS1)
R67C (p.Arg67Cys) in BBS1 (BBSome complex member BBS1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome 1; Bardet-Biedl syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R67C (p.Arg67Cys) variant details
- p.Arg67Cys
- rs767385250
- ClinGen CA6123289
- cosmic curated COSV59147
- ClinVar RCV001934991
- Uncertain significance
- Bardet-Biedl syndrome 1; Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.26
- CADD 13.90
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Bardet-Biedl syndrome 1; Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-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)