K53Q (p.Lys53Gln) variant of F13B (Coagulation factor XIII B chain)
K53Q (p.Lys53Gln) in F13B (Coagulation factor XIII B chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Inborn genetic diseases. The record also includes structural context.
K53Q (p.Lys53Gln) variant details
- p.Lys53Gln
- 1000Genomes rs200113225
- TOPMed rs200113225
- gnomAD rs200113225
- Likely benign
- Inborn genetic diseases
- Missense
- ClinVar: Likely benign (Inborn genetic diseases)
- UniProt: Likely benign
- Structural context available