C2184Y (p.Cys2184Tyr) variant of VWF (von Willebrand factor)
C2184Y (p.Cys2184Tyr) 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 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
C2184Y (p.Cys2184Tyr) variant details
- p.Cys2184Tyr
- rs2136385288
- ClinGen CA383490775
- ClinVar RCV002223126
- Ensembl rs2136385288
- Likely pathogenic
- von Willebrand disease type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.92
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 1.06
- CADD 26.20
- PolyPhen-2 1.00
- ClinVar: Likely pathogenic (von Willebrand disease type 1)
- 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)