S40N (p.Ser40Asn) variant of VWF (von Willebrand factor)
S40N (p.Ser40Asn) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
S40N (p.Ser40Asn) variant details
- p.Ser40Asn
- 1000Genomes rs138001833
- ExAC rs138001833
- TOPMed rs138001833
- gnomAD rs138001833
- Missense
- Variant Prioritization Score for Impact Estimate 0.0792
- REVEL 0.03
- MetaLR 0.07
- MetaSVM -1.05
- CADD 0.00
- PolyPhen-2 0.04
- SIFT 0.94
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available