Q147R (p.Gln147Arg) variant of VWF (von Willebrand factor)
Q147R (p.Gln147Arg) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Q147R (p.Gln147Arg) variant details
- p.Gln147Arg
- gnomAD rs1483313796
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.50
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available