C82Y (p.Cys82Tyr) variant of COL5A2 (Collagen alpha-2(V) chain)
C82Y (p.Cys82Tyr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The record also includes structural context.
C82Y (p.Cys82Tyr) variant details
- p.Cys82Tyr
- TOPMed rs200972671
- Missense
- Structural context available