R854Q (p.Arg854Gln) variant of VWF (von Willebrand factor)
R854Q (p.Arg854Gln) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
R854Q (p.Arg854Gln) variant details
- p.Arg854Gln
- rs41276738
- ClinGen CA114139
- ClinVar RCV000000320
- ClinVar RCV000000321
- Pathogenic
- von Willebrand disease type 2N
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.49
- CADD 29.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Pathogenic (von Willebrand disease type 2N)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the HGDP:ADYGEI population (allele frequency 0.029)
- Structural context available
- Cited in: Expression of two type 2N von Willebrand disease mutations identified in exon 18 of von Willebrand factor gene. (PMID 15461624)
- Cited in: A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln… (PMID 1581215)