G303R (p.Gly303Arg) variant of POLG (DNA polymerase subunit gamma-1)
G303R (p.Gly303Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Progressive sclerosing poliodystrophy. 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.
G303R (p.Gly303Arg) variant details
- p.Gly303Arg
- rs749799663
- ExAC rs749799663
- TOPMed rs749799663
- gnomAD rs749799663
- Pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- REVEL 0.96
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. (PMID 20400524)
- Cited in: The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. (PMID 26095671)