Q44* (p.Gln44Ter) variant of POLG (DNA polymerase subunit gamma-1)
Q44* (p.Gln44Ter) in POLG (DNA polymerase subunit gamma-1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Q44* (p.Gln44Ter) variant details
- p.Gln44Ter
- rs2509277475
- ClinVar RCV004574589
- ClinVar RCV005006440
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.646
- CADD 34.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)