G12C (p.Gly12Cys) variant of PRKN (O60260)
G12C (p.Gly12Cys) in PRKN (O60260) is a missense change. The record also includes experimental measurements and structural context.
G12C (p.Gly12Cys) variant details
- p.Gly12Cys
- cosmic curated COSV10063
- TOPMed rs1790160559
- Missense
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.702