E16V (p.Glu16Val) variant of PRKN (O60260)
E16V (p.Glu16Val) in PRKN (O60260) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
E16V (p.Glu16Val) variant details
- p.Glu16Val
- TOPMed rs199841689
- Missense
- MetaLR 0.61
- MetaSVM 0.20
- SIFT 0.03
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.94