Y119C (p.Tyr119Cys) variant of VWF (von Willebrand factor)
Y119C (p.Tyr119Cys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y119C (p.Tyr119Cys) variant details
- p.Tyr119Cys
- gnomAD rs1305880207
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.35
- MetaLR 0.39
- MetaSVM -0.39
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available