V86E (p.Val86Glu) variant of VWF (von Willebrand factor)
V86E (p.Val86Glu) 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 VWF-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
V86E (p.Val86Glu) variant details
- p.Val86Glu
- rs2497300203
- ClinGen CA383519542
- ClinVar RCV004550896
- Likely pathogenic
- VWF-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- REVEL 0.57
- MetaLR 0.52
- MetaSVM 0.17
- CADD 25.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (VWF-related disorder)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available