Q43L (p.Gln43Leu) variant of CLCN1 (Chloride channel protein 1)

Q43L (p.Gln43Leu) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in MCAR. The record also includes structural context.

Q43L (p.Gln43Leu) variant details