R34Q (p.Arg34Gln) variant of VWF (von Willebrand factor)
R34Q (p.Arg34Gln) 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.
R34Q (p.Arg34Gln) variant details
- p.Arg34Gln
- ExAC rs766468461
- TOPMed rs766468461
- gnomAD rs766468461
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.23
- MetaLR 0.25
- MetaSVM -0.68
- CADD 26.10
- PolyPhen-2 0.94
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available