R72* (p.Arg72Ter) variant of PRKN (O60260)
R72* (p.Arg72Ter) in PRKN (O60260) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R72* (p.Arg72Ter) variant details
- p.Arg72Ter
- ExAC rs767216170
- gnomAD rs767216170
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.403
- CADD 35.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 1.05