A46V (p.Ala46Val) variant of PRKN (O60260)
A46V (p.Ala46Val) in PRKN (O60260) is a missense change. The record also includes variant effect predictions, experimental measurements, and structural context.
A46V (p.Ala46Val) variant details
- p.Ala46Val
- TOPMed rs1373931707
- Missense
- MetaLR 0.67
- MetaSVM 0.46
- SIFT 0.08
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.619