V9L (p.Val9Leu) variant of VWF (von Willebrand factor)
V9L (p.Val9Leu) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
V9L (p.Val9Leu) variant details
- p.Val9Leu
- rs768885457
- ExAC rs768885457
- TOPMed rs768885457
- gnomAD rs768885457
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.04
- CADD 0.37
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available