G19E (p.Gly19Glu) variant of VWF (von Willebrand factor)
G19E (p.Gly19Glu) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- ExAC rs267603621
- TOPMed rs267603621
- gnomAD rs267603621
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.23
- MetaLR 0.18
- MetaSVM -0.66
- CADD 20.30
- PolyPhen-2 0.36
- SIFT 0.47
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available