S110F (p.Ser110Phe) variant of VWF (von Willebrand factor)
S110F (p.Ser110Phe) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
S110F (p.Ser110Phe) variant details
- p.Ser110Phe
- ExAC rs769955003
- gnomAD rs769955003
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- REVEL 0.47
- MetaLR 0.50
- MetaSVM 0.10
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00022)
- Structural context available