Q49* (p.Gln49Ter) variant of POLG (DNA polymerase subunit gamma-1)
Q49* (p.Gln49Ter) 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
Q49* (p.Gln49Ter) variant details
- p.Gln49Ter
- rs200132079
- ClinGen CA393774294
- ClinVar RCV003628031
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.389
- CADD 30.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)