E54D (p.Glu54Asp) variant of FANCC (Fanconi anemia group C protein)

E54D (p.Glu54Asp) in FANCC (Fanconi anemia group C protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

E54D (p.Glu54Asp) variant details