R853Q (p.Arg853Gln) variant of POLG (DNA polymerase subunit gamma-1)
R853Q (p.Arg853Gln) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R853Q (p.Arg853Gln) variant details
- p.Arg853Gln
- rs796052888
- ClinGen CA316703
- ClinVar RCV000188583
- ClinVar RCV000758451
- Pathogenic/Likely pathogenic
- Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio
- Missense
- Variant Prioritization Score for Impact Estimate 0.879
- REVEL 0.93
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial DNA depletion syndrome; not provided; Progressive)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)
- Cited in: POLG-Related Disorders. (PMID 20301791)