L536P (p.Leu536Pro) variant of VWF (von Willebrand factor)
L536P (p.Leu536Pro) 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 Hereditary von Willebrand disease; von Willebrand disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L536P (p.Leu536Pro) variant details
- p.Leu536Pro
- rs1591890769
- ClinGen CA383498252
- ClinVar RCV000852041
- ClinVar RCV002264736
- Likely pathogenic
- Hereditary von Willebrand disease; von Willebrand disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.78
- MetaLR 0.48
- MetaSVM -0.28
- CADD 23.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary von Willebrand disease; von Willebrand disease type 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)