F30C (p.Phe30Cys) variant of F11 (Coagulation factor XI)
F30C (p.Phe30Cys) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Plasma factor XI deficiency. The record also includes structural context.
F30C (p.Phe30Cys) variant details
- p.Phe30Cys
- gnomAD rs932824943
- Uncertain significance
- Plasma factor XI deficiency
- Missense
- ClinVar: Uncertain significance (Plasma factor XI deficiency)
- UniProt: Uncertain significance (in FA11D)
- Structural context available