Q46* (p.Gln46Ter) variant of POLG (DNA polymerase subunit gamma-1)
Q46* (p.Gln46Ter) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
Q46* (p.Gln46Ter) variant details
- p.Gln46Ter
- rs2055628382
- ClinGen CA393774410
- ClinVar RCV003515570
- Ensembl rs2055628382
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 33.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)