Y127C (p.Tyr127Cys) variant of VWF (von Willebrand factor)
Y127C (p.Tyr127Cys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Y127C (p.Tyr127Cys) variant details
- p.Tyr127Cys
- gnomAD rs1410879724
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.48
- MetaLR 0.46
- MetaSVM -0.14
- CADD 25.10
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available