F42L (p.Phe42Leu) variant of VWF (von Willebrand factor)
F42L (p.Phe42Leu) in VWF (von Willebrand factor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of VWF-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
F42L (p.Phe42Leu) variant details
- p.Phe42Leu
- rs200710351
- ClinGen CA232319470
- ClinVar RCV004554519
- ExAC rs200710351
- Uncertain significance
- VWF-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.13
- MetaLR 0.28
- MetaSVM -0.69
- CADD 20.70
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Uncertain significance (VWF-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available