G19E (p.Gly19Glu) variant of COL5A2 (Collagen alpha-2(V) chain)
G19E (p.Gly19Glu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The record also includes structural context.
G19E (p.Gly19Glu) variant details
- p.Gly19Glu
- ExAC rs772307917
- gnomAD rs772307917
- Missense
- Structural context available