Y59H (p.Tyr59His) variant of VWF (von Willebrand factor)
Y59H (p.Tyr59His) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
Y59H (p.Tyr59His) variant details
- p.Tyr59His
- ExAC rs758324527
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.73
- MetaLR 0.62
- MetaSVM 0.51
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available