Y154C (p.Tyr154Cys) variant of VWF (von Willebrand factor)
Y154C (p.Tyr154Cys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Y154C (p.Tyr154Cys) variant details
- p.Tyr154Cys
- TOPMed rs940748585
- gnomAD rs940748585
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.36
- MetaLR 0.51
- MetaSVM -0.44
- CADD 25.20
- PolyPhen-2 0.91
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available