C2163Y (p.Cys2163Tyr) variant of VWF (von Willebrand factor)
C2163Y (p.Cys2163Tyr) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
C2163Y (p.Cys2163Tyr) variant details
- p.Cys2163Tyr
- rs1591848387
- ClinGen CA383491152
- ClinVar RCV000851607
- Ensembl rs1591848387
- Likely pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.91
- MetaLR 0.92
- MetaSVM 1.10
- CADD 27.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary von Willebrand disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)