E53A (p.Glu53Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
E53A (p.Glu53Ala) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The record also includes structural context.
E53A (p.Glu53Ala) variant details
- p.Glu53Ala
- TOPMed rs1212648396
- Missense
- Structural context available