A54E (p.Ala54Glu) variant of VWF (von Willebrand factor)
A54E (p.Ala54Glu) 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 not specified. The record also includes variant effect predictions and structural context.
A54E (p.Ala54Glu) variant details
- p.Ala54Glu
- rs200901782
- ClinGen CA383508078
- ClinVar RCV001820548
- ExAC rs200901782
- Uncertain significance
- not specified
- Missense
- MutPred 0.57
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available