R28* (p.Arg28Ter) variant of PARK7 (Parkinson disease protein 7)
R28* (p.Arg28Ter) in PARK7 (Parkinson disease protein 7) 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 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
R28* (p.Arg28Ter) variant details
- p.Arg28Ter
- rs374429170
- ClinGen CA17283697
- ClinVar RCV001893894
- ESP rs374429170
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 40.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. (PMID 23279440)