T53A (p.Thr53Ala) variant of COL6A2 (Collagen alpha-2(VI) chain)
T53A (p.Thr53Ala) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The record also includes structural context.
T53A (p.Thr53Ala) variant details
- p.Thr53Ala
- Ensembl rs1601216760
- Missense
- Structural context available