C57S (p.Cys57Ser) variant of VWF (von Willebrand factor)
C57S (p.Cys57Ser) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
C57S (p.Cys57Ser) variant details
- p.Cys57Ser
- ExAC rs779874391
- gnomAD rs779874391
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.65
- MetaLR 0.57
- MetaSVM 0.43
- CADD 27.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available