Q63* (p.Gln63Ter) variant of PRKN (O60260)
Q63* (p.Gln63Ter) in PRKN (O60260) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q63* (p.Gln63Ter) variant details
- p.Gln63Ter
- gnomAD rs1435195836
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.851
- CADD 38.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.927