S40I (p.Ser40Ile) variant of VWF (von Willebrand factor)
S40I (p.Ser40Ile) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
S40I (p.Ser40Ile) variant details
- p.Ser40Ile
- 1000Genomes rs138001833
- ExAC rs138001833
- TOPMed rs138001833
- gnomAD rs138001833
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.77
- CADD 0.02
- PolyPhen-2 0.44
- SIFT 0.10
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available