E79V (p.Glu79Val) variant of PRKN (O60260)
E79V (p.Glu79Val) in PRKN (O60260) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
E79V (p.Glu79Val) variant details
- p.Glu79Val
- TOPMed rs1440224564
- Missense
- MetaLR 0.50
- MetaSVM -0.35
- SIFT 0.44
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.923