K53R (p.Lys53Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
K53R (p.Lys53Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The record also includes structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- Ensembl rs2077714984
- Missense
- Structural context available