Q5* (p.Gln5Ter) variant of PINK1 (Q9BXM7)
Q5* (p.Gln5Ter) in PINK1 (Q9BXM7) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
Q5* (p.Gln5Ter) variant details
- p.Gln5Ter
- rs1005937012
- ClinGen CA18987686
- ClinVar RCV000818442
- TOPMed rs1005937012
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.84
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available
- Cited in: Monogenic Parkinson Disease Overview. (PMID 20301402)
- Cited in: PINK1 Type of Young-Onset Parkinson Disease. (PMID 20301792)