E54Q (p.Glu54Gln) variant of F10 (Coagulation factor X)
E54Q (p.Glu54Gln) in F10 (Coagulation factor X) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in FA10D. The record also includes structural context.
E54Q (p.Glu54Gln) variant details
- p.Glu54Gln
- TOPMed rs121964939
- Likely pathogenic
- in FA10D
- Missense
- EBI: Likely pathogenic (in FA10D)
- UniProt: Likely pathogenic (in FA10D)
- Structural context available