T125K (p.Thr125Lys) variant of COL5A2 (Collagen alpha-2(V) chain)
T125K (p.Thr125Lys) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The record also includes structural context.
T125K (p.Thr125Lys) variant details
- p.Thr125Lys
- TOPMed rs1686973835
- Missense
- Structural context available