G39E (p.Gly39Glu) variant of VWF (von Willebrand factor)
G39E (p.Gly39Glu) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G39E (p.Gly39Glu) variant details
- p.Gly39Glu
- ExAC rs762049443
- gnomAD rs762049443
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- REVEL 0.66
- MetaLR 0.59
- MetaSVM 0.49
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available