E33K (p.Glu33Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
E33K (p.Glu33Lys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The record also includes structural context.
E33K (p.Glu33Lys) variant details
- p.Glu33Lys
- gnomAD rs1179611947
- Missense
- Structural context available