G46* (p.Gly46Ter) variant of GJA1 (Gap junction alpha-1 protein)

G46* (p.Gly46Ter) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

G46* (p.Gly46Ter) variant details