R597G (p.Arg597Gly) variant of POLG (DNA polymerase subunit gamma-1)
R597G (p.Arg597Gly) 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 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
R597G (p.Arg597Gly) variant details
- p.Arg597Gly
- rs139717885
- ClinGen CA10602203
- ClinVar RCV000758439
- 1000Genomes rs139717885
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.91
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)