M47T (p.Met47Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
M47T (p.Met47Thr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The record also includes structural context.
M47T (p.Met47Thr) variant details
- p.Met47Thr
- gnomAD rs1687238166
- Missense
- Structural context available