R869Q (p.Arg869Gln) variant of POLG (DNA polymerase subunit gamma-1)
R869Q (p.Arg869Gln) 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 4b; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R869Q (p.Arg869Gln) variant details
- p.Arg869Gln
- rs1356604153
- ClinGen CA10602235
- ClinVar RCV000503882
- ClinVar RCV000758310
- Pathogenic/Likely pathogenic
- Mitochondrial DNA depletion syndrome 4b; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.92
- CADD 29.60
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mitochondrial DNA depletion syndrome 4b; Progressive sclerosing)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)