A122G (p.Ala122Gly) variant of BBS2 (BBSome complex member BBS2)
A122G (p.Ala122Gly) 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 0.46 / 1. The record also includes published literature and structural context.
A122G (p.Ala122Gly) variant details
- p.Ala122Gly
- rs17856449
- ClinGen CA395984517
- ClinVar RCV002000607
- TOPMed rs17856449
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- AlphaMissense 0.14
- MetaLR 0.45
- MetaSVM -0.30
- SIFT 0.26
- MutPred 0.23
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs17856449)
- UniProt: Uncertain significance (in dbSNP:rs17856449)
- 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)