Q77H (p.Gln77His) variant of POLG (DNA polymerase subunit gamma-1)
Q77H (p.Gln77His) 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 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q77H (p.Gln77His) variant details
- p.Gln77His
- rs750555988
- ClinGen CA7725156
- ClinVar RCV002814667
- ExAC rs750555988
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.745
- REVEL 0.93
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)