G48D (p.Gly48Asp) variant of COL1A2 (Collagen alpha-2(I) chain)

G48D (p.Gly48Asp) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

G48D (p.Gly48Asp) variant details