R273W (p.Arg273Trp) variant of VWF (von Willebrand factor)
R273W (p.Arg273Trp) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary von Willebrand disease; von Willebrand disease type 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
R273W (p.Arg273Trp) variant details
- p.Arg273Trp
- rs61753997
- ClinGen CA228829
- ClinVar RCV000086907
- ClinVar RCV003313936
- Pathogenic/Likely pathogenic
- not provided; Hereditary von Willebrand disease; von Willebrand disease type 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.82
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary von Willebrand disease; von Willebrand)
- EBI: Pathogenic (in VWD1 and VWD3)
- UniProt: Pathogenic (in VWD1 and VWD3)
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: A novel von Willebrand disease-causing mutation (Arg273Trp) in the von Willebrand factor propeptide that results in… (PMID 10887119)
- Cited in: Von Willebrand Disease. (PMID 20301765)