R574Q (p.Arg574Gln) variant of POLG (DNA polymerase subunit gamma-1)
R574Q (p.Arg574Gln) 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 POLG-related disorder; Progressive sclerosing poliodystrophy; not provided. 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.
R574Q (p.Arg574Gln) variant details
- p.Arg574Gln
- rs764287987
- ClinGen CA7724701
- cosmic curated COSV51524
- ClinVar RCV000758294
- Pathogenic/Likely pathogenic
- POLG-related disorder; Progressive sclerosing poliodystrophy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.763
- REVEL 0.73
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (POLG-related disorder; Progressive sclerosing poliodystrophy; no)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)