Q25* (p.Gln25Ter) variant of PRKN (O60260)
Q25* (p.Gln25Ter) in PRKN (O60260) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q25* (p.Gln25Ter) variant details
- p.Gln25Ter
- rs1440010564
- ClinGen CA366477375
- ClinVar RCV001816450
- ClinVar RCV002489862
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.701
- CADD 43.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Parkin (PRKN) cellular abundance: score 0.829
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PRKN-Related Early-Onset Parkinson Disease. (PMID 20301651)