R1374L (p.Arg1374Leu) variant of VWF (von Willebrand factor)
R1374L (p.Arg1374Leu) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Hereditary von Willebrand disease; von Willebrand disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R1374L (p.Arg1374Leu) variant details
- p.Arg1374Leu
- rs61750072
- ClinGen CA228543
- ClinVar RCV000086736
- ClinVar RCV002243737
- Pathogenic/Likely pathogenic
- not provided; Hereditary von Willebrand disease; von Willebrand disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.91
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Hereditary von Willebrand disease; von Willebrand)
- 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)