Y317C (p.Tyr317Cys) variant of BBS2 (BBSome complex member BBS2)
Y317C (p.Tyr317Cys) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Bardet-Biedl syndrome; BBS2-related ciliopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature and structural context.
Y317C (p.Tyr317Cys) variant details
- p.Tyr317Cys
- rs1597016660
- ClinGen CA395980865
- ClinVar RCV000803214
- ClinVar RCV001825586
- Pathogenic/Likely pathogenic
- Bardet-Biedl syndrome; BBS2-related ciliopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.857
- AlphaMissense 0.77
- MetaLR 0.92
- MetaSVM 1.05
- SIFT 0.00
- MutPred 0.55
- ClinVar: Pathogenic/Likely pathogenic (Bardet-Biedl syndrome; BBS2-related ciliopathy)
- EBI: Pathogenic (in BBS2)
- UniProt: Pathogenic (in BBS2)
- Structural context available
- Cited in: BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. (PMID 21344540)
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)