Q43H (p.Gln43His) variant of CLCN1 (Chloride channel protein 1)

Q43H (p.Gln43His) 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.

Q43H (p.Gln43His) variant details