E70K (p.Glu70Lys) variant of CPS1 (P31327)
E70K (p.Glu70Lys) in CPS1 (P31327) is a missense change. The record also includes structural context.
E70K (p.Glu70Lys) variant details
- p.Glu70Lys
- cosmic curated COSV51806
- Missense
- Structural context available