Q54* (p.Gln54Ter) variant of POLG (DNA polymerase subunit gamma-1)
Q54* (p.Gln54Ter) 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 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q54* (p.Gln54Ter) variant details
- p.Gln54Ter
- rs774768199
- ClinGen CA7725179
- ClinVar RCV000735156
- ClinVar RCV003461011
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.379
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)