R275Q (p.Arg275Gln) variant of POLG (DNA polymerase subunit gamma-1)
R275Q (p.Arg275Gln) 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 Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R275Q (p.Arg275Gln) variant details
- p.Arg275Gln
- rs1555453950
- ClinGen CA10602300
- ClinVar RCV000758488
- ClinVar RCV005004402
- Pathogenic/Likely pathogenic
- Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with
- Missense
- Variant Prioritization Score for Impact Estimate 0.875
- REVEL 0.93
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Progressive sclerosing poliodystrophy; Progressive external opht)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Cited in: The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. (PMID 26095671)
- Cited in: The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy… (PMID 30552426)