L61P (p.Leu61Pro) variant of VWF (von Willebrand factor)
L61P (p.Leu61Pro) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary von Willebrand disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L61P (p.Leu61Pro) variant details
- p.Leu61Pro
- rs1306914162
- ClinGen CA383507786
- ClinVar RCV000852058
- gnomAD rs1306914162
- Uncertain significance
- Hereditary von Willebrand disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.70
- MetaLR 0.62
- MetaSVM 0.51
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary von Willebrand disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Von Willebrand Disease. (PMID 20301765)