G28S (p.Gly28Ser) variant of VWF (von Willebrand factor)
G28S (p.Gly28Ser) 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 0.13 / 1. The record also includes population frequency data and structural context.
G28S (p.Gly28Ser) variant details
- p.Gly28Ser
- ExAC rs777235699
- TOPMed rs777235699
- gnomAD rs777235699
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- REVEL 0.00
- MetaLR 0.05
- MetaSVM -1.07
- CADD 5.56
- PolyPhen-2 0.01
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available