R853G (p.Arg853Gly) variant of POLG (DNA polymerase subunit gamma-1)
R853G (p.Arg853Gly) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
R853G (p.Arg853Gly) variant details
- p.Arg853Gly
- rs121918053
- ClinGen CA393754389
- ClinVar RCV003626909
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.86
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic (in PEOB1)
- UniProt: Likely pathogenic (in PEOB1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)