D47H (p.Asp47His) variant of VWF (von Willebrand factor)
D47H (p.Asp47His) 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 0.88 / 1. The record also includes structural context.
D47H (p.Asp47His) variant details
- p.Asp47His
- rs61753985
- ClinGen CA228271
- ClinVar RCV000086564
- Ensembl rs61753985
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- MutPred 0.88
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Structural context available