R68H (p.Arg68His) variant of VWF (von Willebrand factor)
R68H (p.Arg68His) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R68H (p.Arg68His) variant details
- p.Arg68His
- ExAC rs753973552
- gnomAD rs753973552
- Missense
- Variant Prioritization Score for Impact Estimate 0.0923
- REVEL 0.06
- MetaLR 0.06
- MetaSVM -0.99
- CADD 1.43
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available