K40E (p.Lys40Glu) variant of COL6A2 (Collagen alpha-2(VI) chain)
K40E (p.Lys40Glu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The record also includes structural context.
K40E (p.Lys40Glu) variant details
- p.Lys40Glu
- Ensembl rs727502825
- Missense
- Structural context available