R854W (p.Arg854Trp) variant of VWF (von Willebrand factor)
R854W (p.Arg854Trp) 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 not provided; Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R854W (p.Arg854Trp) variant details
- p.Arg854Trp
- rs61748482
- ClinGen CA228351
- ClinVar RCV000086619
- ClinVar RCV001787049
- Likely pathogenic
- not provided; Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.55
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Hereditary von Willebrand disease)
- EBI: Likely pathogenic (in VWD2)
- UniProt: Likely pathogenic (in VWD2)
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)