R1306L (p.Arg1306Leu) variant of VWF (von Willebrand factor)
R1306L (p.Arg1306Leu) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R1306L (p.Arg1306Leu) variant details
- p.Arg1306Leu
- rs61749385
- ClinGen CA228484
- ClinVar RCV000086701
- ClinVar RCV002243730
- Pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.77
- AlphaMissense 0.22
- MetaLR 0.69
- MetaSVM 0.47
- CADD 24.20
- PolyPhen-2 0.94
- ClinVar: Pathogenic (Hereditary von Willebrand disease)
- EBI: Pathogenic (in VWD2)
- UniProt: Pathogenic (in VWD2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)