R1341Q (p.Arg1341Gln) variant of VWF (von Willebrand factor)
R1341Q (p.Arg1341Gln) 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 2B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
R1341Q (p.Arg1341Gln) variant details
- p.Arg1341Gln
- rs61749403
- ClinGen CA114129
- ClinVar RCV000000315
- ClinVar RCV000086721
- Pathogenic
- Von Willebrand disease type 2B
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.79
- AlphaMissense 0.16
- MetaLR 0.94
- MetaSVM 1.03
- CADD 26.40
- PolyPhen-2 1.00
- ClinVar: Pathogenic (Von Willebrand disease type 2B)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the… (PMID 1672694)
- Cited in: The genetic basis of von Willebrand disease. (PMID 20409624)