Q48E (p.Gln48Glu) variant of POLG (DNA polymerase subunit gamma-1)
Q48E (p.Gln48Glu) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q48E (p.Gln48Glu) variant details
- p.Gln48Glu
- rs1299097778
- ClinGen CA393774341
- ClinVar RCV003626430
- gnomAD rs1299097778
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.27
- CADD 0.24
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)