C94T (p.Cys94Thr) variant of FBN1 (Fibrillin-1)

C94T (p.Cys94Thr) in FBN1 (Fibrillin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact.

C94T (p.Cys94Thr) variant details