L1288R (p.Leu1288Arg) variant of VWF (von Willebrand factor)
L1288R (p.Leu1288Arg) 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 Hereditary von Willebrand disease; von Willebrand disease type 2; von Willebrand. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
L1288R (p.Leu1288Arg) variant details
- p.Leu1288Arg
- rs267607334
- ClinGen CA228470
- ClinVar RCV000086693
- ClinVar RCV000851986
- Pathogenic/Likely pathogenic
- Hereditary von Willebrand disease; von Willebrand disease type 2; von Willebrand
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- AlphaMissense 0.83
- MetaLR 0.83
- MetaSVM 0.93
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic/Likely pathogenic (Hereditary von Willebrand disease; von Willebrand disease type 2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)