I40F (p.Ile40Phe) variant of COL6A3 (Collagen alpha-3(VI) chain)

I40F (p.Ile40Phe) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.

I40F (p.Ile40Phe) variant details