Q60* (p.Gln60Ter) variant of POLG (DNA polymerase subunit gamma-1)
Q60* (p.Gln60Ter) in POLG (DNA polymerase subunit gamma-1) 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, published literature, and structural context.
Q60* (p.Gln60Ter) variant details
- p.Gln60Ter
- rs780379693
- ClinGen CA393773862
- ClinVar RCV002715795
- ClinVar RCV003482419
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.704
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)