L57V (p.Leu57Val) variant of F12 (Coagulation factor XII)
L57V (p.Leu57Val) in F12 (Coagulation factor XII) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Factor XII deficiency disease. The record also includes structural context.
L57V (p.Leu57Val) variant details
- p.Leu57Val
- rs2481044651
- ClinGen CA362333843
- ClinVar RCV003991827
- Uncertain significance
- Factor XII deficiency disease
- Missense
- ClinVar: Uncertain significance (Factor XII deficiency disease)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available