G38E (p.Gly38Glu) variant of POLG (DNA polymerase subunit gamma-1)
G38E (p.Gly38Glu) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G38E (p.Gly38Glu) variant details
- p.Gly38Glu
- rs1403540142
- ClinGen CA393774695
- ClinVar RCV001986546
- TOPMed rs1403540142
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.19
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)