V86M (p.Val86Met) variant of VWF (von Willebrand factor)
V86M (p.Val86Met) in VWF (von Willebrand factor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
V86M (p.Val86Met) variant details
- p.Val86Met
- rs140044866
- ESP rs140044866
- ExAC rs140044866
- TOPMed rs140044866
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.38
- MetaLR 0.45
- MetaSVM -0.05
- CADD 23.30
- PolyPhen-2 1.00
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available