L150P (p.Leu150Pro) variant of VWF (von Willebrand factor)
L150P (p.Leu150Pro) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L150P (p.Leu150Pro) variant details
- p.Leu150Pro
- rs61753994
- ClinGen CA228603
- ClinVar RCV000086768
- ClinVar RCV000851799
- Likely pathogenic
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.648
- REVEL 0.71
- MetaLR 0.53
- MetaSVM 0.01
- CADD 28.00
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary von Willebrand disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)