G8W (p.Gly8Trp) variant of VWF (von Willebrand factor)
G8W (p.Gly8Trp) in VWF (von Willebrand factor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
G8W (p.Gly8Trp) variant details
- p.Gly8Trp
- ESP rs201015235
- ExAC rs201015235
- TOPMed rs201015235
- gnomAD rs201015235
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0757
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.03
- CADD 0.87
- PolyPhen-2 0.34
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available