E56G (p.Glu56Gly) variant of F10 (Coagulation factor X)
E56G (p.Glu56Gly) in F10 (Coagulation factor X) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary factor X deficiency disease. The record also includes structural context.
E56G (p.Glu56Gly) variant details
- p.Glu56Gly
- rs2503081595
- ClinGen CA388787602
- ClinVar RCV003445228
- Likely pathogenic
- Hereditary factor X deficiency disease
- Missense
- ClinVar: Likely pathogenic (Hereditary factor X deficiency disease)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available