G426S (p.Gly426Ser) variant of POLG (DNA polymerase subunit gamma-1)
G426S (p.Gly426Ser) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G426S (p.Gly426Ser) variant details
- p.Gly426Ser
- rs775576189
- ClinGen CA7724884
- cosmic curated COSV51521
- ClinVar RCV000534104
- Pathogenic/Likely pathogenic
- Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.93
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial DNA depletion syndrome; not provided; Progressive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: Mitochondrial Neurogastrointestinal Encephalopathy Disease. (PMID 20301358)
- Cited in: POLG-Related Disorders. (PMID 20301791)