C849Y (p.Cys849Tyr) variant of VWF (von Willebrand factor)
C849Y (p.Cys849Tyr) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Von Willebrand disease type 2A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
C849Y (p.Cys849Tyr) variant details
- p.Cys849Tyr
- rs772796741
- ClinGen CA383520272
- ClinVar RCV002244528
- ClinVar RCV004821325
- Likely pathogenic
- Von Willebrand disease type 2A
- Missense
- Variant Prioritization Score for Impact Estimate 0.836
- MutPred 0.84
- ClinVar: Likely pathogenic (Von Willebrand disease type 2A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)