R1205H (p.Arg1205His) variant of VWF (von Willebrand factor)
R1205H (p.Arg1205His) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of VWF-related disorder; not provided; Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R1205H (p.Arg1205His) variant details
- p.Arg1205His
- rs121964895
- ClinGen CA114160
- ClinVar RCV000000335
- ClinVar RCV000000336
- Pathogenic
- VWF-related disorder; not provided; Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.23
- AlphaMissense 0.18
- MetaLR 0.11
- MetaSVM -0.97
- CADD 22.70
- PolyPhen-2 0.91
- ClinVar: Pathogenic (VWF-related disorder; not provided; Hereditary von Willebrand di)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Von Willebrand Disease type 2M "Vicenza" in Italian and German patients: identification of the first candidate mutation… (PMID 10669167)
- Cited in: Reduced von Willebrand factor survival in type Vicenza von Willebrand disease. (PMID 11756169)