E30K (p.Glu30Lys) variant of F8 (Coagulation factor VIII)
E30K (p.Glu30Lys) 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 not specified. The record also includes structural context.
E30K (p.Glu30Lys) variant details
- p.Glu30Lys
- TOPMed rs1557287587
- gnomAD rs1557287587
- Uncertain significance
- not specified
- Missense
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in HEMA)
- UniProt: Uncertain significance (in HEMA)
- Structural context available