R816W (p.Arg816Trp) variant of VWF (von Willebrand factor)
R816W (p.Arg816Trp) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of von Willebrand disease type 2N. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
R816W (p.Arg816Trp) variant details
- p.Arg816Trp
- rs121964894
- ClinGen CA114137
- ClinVar RCV000000319
- ClinVar RCV000086613
- Pathogenic
- von Willebrand disease type 2N
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.76
- MetaLR 0.64
- MetaSVM 0.39
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (von Willebrand disease type 2N)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Cited in: Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant… (PMID 1832934)
- Cited in: The genetic basis of von Willebrand disease. (PMID 20409624)