R34G (p.Arg34Gly) variant of VWF (von Willebrand factor)
R34G (p.Arg34Gly) in VWF (von Willebrand factor) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R34G (p.Arg34Gly) variant details
- p.Arg34Gly
- rs61753984
- ClinGen CA228253
- ClinVar RCV000086553
- ExAC rs61753984
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.34
- MetaLR 0.27
- MetaSVM -0.44
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: not provided (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available