R160Q (p.Arg160Gln) variant of BBS1 (BBSome complex member BBS1)
R160Q (p.Arg160Gln) 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; Retinal dystrophy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
R160Q (p.Arg160Gln) variant details
- p.Arg160Gln
- rs376894444
- ClinGen CA6123351
- ClinVar RCV000411434
- ClinVar RCV000504813
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome; Retinal dystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- REVEL 0.60
- CADD 37.00
- PolyPhen-2 0.95
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome; Retinal dystrophy; not provided)
- EBI: Pathogenic (in BBS1)
- UniProt: Pathogenic (in BBS1)
- Population evidence available
- Structural context available
- Cited in: Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. (PMID 15770229)
- Cited in: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PMID 21344540)