R1374H (p.Arg1374His) variant of VWF (von Willebrand factor)
R1374H (p.Arg1374His) 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 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R1374H (p.Arg1374His) variant details
- p.Arg1374His
- rs61750072
- ClinGen CA228541
- ClinVar RCV000086735
- ClinVar RCV000626712
- Pathogenic
- von Willebrand disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.88
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (von Willebrand disease type 2)
- 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: Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for… (PMID 7620154)
- Cited in: A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with… (PMID 7734373)