Y126C (p.Tyr126Cys) variant of VWF (von Willebrand factor)
Y126C (p.Tyr126Cys) 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.
Y126C (p.Tyr126Cys) variant details
- p.Tyr126Cys
- gnomAD rs1004001002
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.40
- MetaLR 0.40
- MetaSVM -0.37
- CADD 24.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available