A63E (p.Ala63Glu) variant of F11 (Coagulation factor XI)
A63E (p.Ala63Glu) in F11 (Coagulation factor XI) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in FA11D. The record also includes population frequency data and structural context.
A63E (p.Ala63Glu) variant details
- p.Ala63Glu
- ExAC rs281875244
- TOPMed rs281875244
- gnomAD rs281875244
- Likely pathogenic
- in FA11D
- Missense
- EBI: Likely pathogenic (in FA11D)
- UniProt: Likely pathogenic (in FA11D)
- Population evidence available
- Structural context available