R1315L (p.Arg1315Leu) variant of VWF (von Willebrand factor)
R1315L (p.Arg1315Leu) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of von Willebrand disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
R1315L (p.Arg1315Leu) variant details
- p.Arg1315Leu
- rs61749396
- ClinGen CA228506
- ClinVar RCV000086714
- ClinVar RCV002243733
- Likely pathogenic
- von Willebrand disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.837
- AlphaMissense 0.77
- MetaLR 0.87
- MetaSVM 1.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.66
- ClinVar: Likely pathogenic (von Willebrand disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)