R852H (p.Arg852His) variant of POLG (DNA polymerase subunit gamma-1)
R852H (p.Arg852His) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
R852H (p.Arg852His) variant details
- p.Arg852His
- rs1567187093
- ClinGen CA10602232
- ClinVar RCV000758450
- TOPMed rs1567187093
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.86
- REVEL 0.97
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic (in MTDPS4A)
- UniProt: Likely pathogenic (in MTDPS4A)
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)