D30N (p.Asp30Asn) variant of COL5A2 (Collagen alpha-2(V) chain)
D30N (p.Asp30Asn) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. The record also includes structural context.
D30N (p.Asp30Asn) variant details
- p.Asp30Asn
- ExAC rs754612687
- gnomAD rs754612687
- Missense
- Structural context available