G60A (p.Gly60Ala) variant of BBS1 (BBSome complex member BBS1)
G60A (p.Gly60Ala) 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 0.64 / 1. The record also includes published literature and structural context.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- rs1361837075
- ClinGen CA381455637
- ClinVar RCV003033493
- TOPMed rs1361837075
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- AlphaMissense 0.22
- MetaLR 0.80
- MetaSVM 0.64
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.37
- 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)