Q65R (p.Gln65Arg) variant of BBS1 (BBSome complex member BBS1)
Q65R (p.Gln65Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
Q65R (p.Gln65Arg) variant details
- p.Gln65Arg
- rs1856007588
- ClinGen CA381455762
- ClinVar RCV001054281
- Ensembl rs1856007588
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- AlphaMissense 0.08
- MetaLR 0.50
- MetaSVM -0.29
- PolyPhen-2 0.03
- SIFT 0.51
- EVE 0.17
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)