S110A (p.Ser110Ala) variant of VWF (von Willebrand factor)
S110A (p.Ser110Ala) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S110A (p.Ser110Ala) variant details
- p.Ser110Ala
- Ensembl rs1591924432
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.23
- MetaLR 0.36
- MetaSVM -0.41
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available