Y56C (p.Tyr56Cys) variant of VWF (von Willebrand factor)
Y56C (p.Tyr56Cys) 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.
Y56C (p.Tyr56Cys) variant details
- p.Tyr56Cys
- gnomAD rs1301367628
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- REVEL 0.18
- MetaLR 0.14
- MetaSVM -0.98
- CADD 22.90
- PolyPhen-2 0.58
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available