Y56H (p.Tyr56His) variant of VWF (von Willebrand factor)
Y56H (p.Tyr56His) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
Y56H (p.Tyr56His) variant details
- p.Tyr56His
- TOPMed rs1945427601
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.16
- MetaLR 0.13
- MetaSVM -1.01
- CADD 20.50
- PolyPhen-2 0.38
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available