A15P (p.Ala15Pro) variant of GABRB3 (P28472)

A15P (p.Ala15Pro) in GABRB3 (P28472) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in ECA5, the mutant protein is hyperglycosylated and has reduced mean current de. The record also includes structural context.

A15P (p.Ala15Pro) variant details