R139G (p.Arg139Gly) variant of VWF (von Willebrand factor)
R139G (p.Arg139Gly) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R139G (p.Arg139Gly) variant details
- p.Arg139Gly
- 1000Genomes rs545695166
- ExAC rs545695166
- gnomAD rs545695166
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.40
- MetaLR 0.36
- MetaSVM -0.40
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available