Q55* (p.Gln55Ter) variant of POLG (DNA polymerase subunit gamma-1)
Q55* (p.Gln55Ter) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
Q55* (p.Gln55Ter) variant details
- p.Gln55Ter
- rs2055626123
- ClinGen CA393774032
- ClinVar RCV001582267
- ClinVar RCV003626676
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 34.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)