I24K (p.Ile24Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
I24K (p.Ile24Lys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The record also includes structural context.
I24K (p.Ile24Lys) variant details
- p.Ile24Lys
- Ensembl rs1688743824
- Missense
- Structural context available