R953H (p.Arg953His) variant of POLG (DNA polymerase subunit gamma-1)
R953H (p.Arg953His) 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; Autosomal recessive POLG-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R953H (p.Arg953His) variant details
- p.Arg953His
- rs1567186581
- ClinGen CA10602247
- cosmic curated COSV99174
- ClinVar RCV000758462
- Likely pathogenic
- Progressive sclerosing poliodystrophy; Autosomal recessive POLG-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy; Autosomal recessive POLG-)
- EBI: Likely pathogenic (in PEOA1)
- UniProt: Likely pathogenic (in PEOA1)
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)