E131K (p.Glu131Lys) variant of F13B (Coagulation factor XIII B chain)
E131K (p.Glu131Lys) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
E131K (p.Glu131Lys) variant details
- p.Glu131Lys
- Ensembl rs868519305
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available