V40G (p.Val40Gly) variant of BBS2 (BBSome complex member BBS2)
V40G (p.Val40Gly) in BBS2 (BBSome complex member BBS2) 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 0.85 / 1. The record also includes published literature and structural context.
V40G (p.Val40Gly) variant details
- p.Val40Gly
- rs1964683448
- ClinGen CA395986489
- ClinVar RCV001341690
- Ensembl rs1964683448
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- AlphaMissense 0.83
- MetaLR 0.83
- MetaSVM 0.86
- SIFT 0.00
- MutPred 0.69
- 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)