R5G (p.Arg5Gly) variant of VWF (von Willebrand factor)
R5G (p.Arg5Gly) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
R5G (p.Arg5Gly) variant details
- p.Arg5Gly
- TOPMed rs1945449730
- Missense
- Variant Prioritization Score for Impact Estimate 0.12
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.01
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available