I23T (p.Ile23Thr) variant of GJB2 (Gap junction beta-2 protein)

I23T (p.Ile23Thr) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

I23T (p.Ile23Thr) variant details