A38D (p.Ala38Asp) variant of RYR1 (Ryanodine receptor 1)

A38D (p.Ala38Asp) in RYR1 (Ryanodine receptor 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

A38D (p.Ala38Asp) variant details