W25* (p.Trp25Ter) variant of POLG (DNA polymerase subunit gamma-1)
W25* (p.Trp25Ter) 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 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
W25* (p.Trp25Ter) variant details
- p.Trp25Ter
- rs1021719232
- ClinGen CA274566757
- ClinVar RCV000855758
- TOPMed rs1021719232
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.718
- CADD 36.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)