L13P (p.Leu13Pro) variant of F8 (Coagulation factor VIII)
L13P (p.Leu13Pro) in F8 (Coagulation factor VIII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary factor VIII deficiency disease; not provided. The record also includes structural context.
L13P (p.Leu13Pro) variant details
- p.Leu13Pro
- TOPMed rs1333086942
- Uncertain significance
- Hereditary factor VIII deficiency disease; not provided
- Missense
- ClinVar: Uncertain significance (Hereditary factor VIII deficiency disease; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available