I82T (p.Ile82Thr) variant of GJA1 (Gap junction alpha-1 protein)

I82T (p.Ile82Thr) in GJA1 (Gap junction alpha-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.

I82T (p.Ile82Thr) variant details