E5K (p.Glu5Lys) variant of ACTN2 (Alpha-actinin-2)
E5K (p.Glu5Lys) in ACTN2 (Alpha-actinin-2) is a missense change. The record also includes structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- gnomAD rs1255377980
- Missense
- Structural context available