E79K (p.Glu79Lys) variant of PRKN (O60260)
E79K (p.Glu79Lys) in PRKN (O60260) is a missense change. The record also includes experimental measurements and structural context.
E79K (p.Glu79Lys) variant details
- p.Glu79Lys
- ExAC rs770994041
- TOPMed rs770994041
- gnomAD rs770994041
- Missense
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.923