V116L (p.Val116Leu) variant of COL2A1 (Collagen alpha-1(II) chain)

V116L (p.Val116Leu) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.

V116L (p.Val116Leu) variant details