T99A (p.Thr99Ala) variant of COL5A2 (Collagen alpha-2(V) chain)
T99A (p.Thr99Ala) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The record also includes structural context.
T99A (p.Thr99Ala) variant details
- p.Thr99Ala
- TOPMed rs1687233065
- Missense
- Structural context available