H44Q (p.His44Gln) variant of CLCN1 (Chloride channel protein 1)

H44Q (p.His44Gln) in CLCN1 (Chloride channel protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

H44Q (p.His44Gln) variant details