E27Q (p.Glu27Gln) variant of F9 (Coagulation factor IX)
E27Q (p.Glu27Gln) in F9 (Coagulation factor IX) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- Ensembl rs387906475
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available