N117D (p.Asn117Asp) variant of ACTA2 (Actin, aortic smooth muscle)

N117D (p.Asn117Asp) in ACTA2 (Actin, aortic smooth muscle) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in AAT6. The record also includes structural context.

N117D (p.Asn117Asp) variant details