L21F (p.Leu21Phe) variant of VWF (von Willebrand factor)
L21F (p.Leu21Phe) in VWF (von Willebrand factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
L21F (p.Leu21Phe) variant details
- p.Leu21Phe
- TOPMed rs1248200326
- gnomAD rs1248200326
- Missense
- Variant Prioritization Score for Impact Estimate 0.0994
- REVEL 0.02
- MetaLR 0.07
- MetaSVM -1.03
- CADD 1.98
- SIFT 0.28
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available