G57R (p.Gly57Arg) variant of BBS1 (BBSome complex member BBS1)
G57R (p.Gly57Arg) 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; Bardet-Biedl syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- rs1355873337
- ClinGen CA381455572
- ClinVar RCV000723248
- ClinVar RCV001317094
- Uncertain significance
- Bardet-Biedl syndrome; Bardet-Biedl syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- REVEL 0.88
- CADD 29.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Bardet-Biedl syndrome; Bardet-Biedl syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)