G318R (p.Gly318Arg) variant of BBS1 (BBSome complex member BBS1)
G318R (p.Gly318Arg) 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; Retinitis pigmentosa; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
G318R (p.Gly318Arg) variant details
- p.Gly318Arg
- rs1555048487
- ClinGen CA381461967
- ClinVar RCV000513191
- ClinVar RCV000674877
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome; Retinitis pigmentosa; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.80
- CADD 35.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome; Retinitis pigmentosa; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)