C2451Y (p.Cys2451Tyr) variant of VWF (von Willebrand factor)
C2451Y (p.Cys2451Tyr) 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 Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
C2451Y (p.Cys2451Tyr) variant details
- p.Cys2451Tyr
- rs1591838833
- ClinGen CA383490468
- ClinVar RCV000852203
- Ensembl rs1591838833
- Likely pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- AlphaMissense 0.87
- MetaLR 0.89
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.71
- ClinVar: Likely pathogenic (Hereditary von Willebrand disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)