P88L (p.Pro88Leu) variant of GJA1 (Gap junction alpha-1 protein)

P88L (p.Pro88Leu) 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 structural context.

P88L (p.Pro88Leu) variant details