Q64* (p.Gln64Ter) variant of PRKN (O60260)
Q64* (p.Gln64Ter) 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.
Q64* (p.Gln64Ter) variant details
- p.Gln64Ter
- TOPMed rs1779947692
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.851
- CADD 38.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.02