R9I (p.Arg9Ile) variant of COL5A2 (Collagen alpha-2(V) chain)
R9I (p.Arg9Ile) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The record also includes structural context.
R9I (p.Arg9Ile) variant details
- p.Arg9Ile
- TOPMed rs1688745248
- Missense
- Structural context available