L17F (p.Leu17Phe) variant of VWF (von Willebrand factor)
L17F (p.Leu17Phe) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L17F (p.Leu17Phe) variant details
- p.Leu17Phe
- TOPMed rs1295142745
- gnomAD rs1295142745
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.10
- CADD 19.90
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available