F18I (p.Phe18Ile) variant of CLCN5 (P51795)

F18I (p.Phe18Ile) in CLCN5 (P51795) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

F18I (p.Phe18Ile) variant details