S130C (p.Ser130Cys) variant of VWF (von Willebrand factor)
S130C (p.Ser130Cys) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S130C (p.Ser130Cys) variant details
- p.Ser130Cys
- TOPMed rs1433436236
- gnomAD rs1433436236
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.38
- MetaLR 0.44
- MetaSVM -0.26
- CADD 24.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available