T851A (p.Thr851Ala) variant of POLG (DNA polymerase subunit gamma-1)
T851A (p.Thr851Ala) 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 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T851A (p.Thr851Ala) variant details
- p.Thr851Ala
- rs775445970
- ClinGen CA7724427
- ClinVar RCV000758417
- ClinVar RCV004702394
- Pathogenic/Likely pathogenic
- Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.98
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial DNA depletion syndrome; not provided; Progressive)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)