Y134C (p.Tyr134Cys) variant of VWF (von Willebrand factor)
Y134C (p.Tyr134Cys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
Y134C (p.Tyr134Cys) variant details
- p.Tyr134Cys
- gnomAD rs1486478814
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.40
- MetaLR 0.40
- MetaSVM -0.34
- CADD 25.20
- PolyPhen-2 0.93
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available