Q44H (p.Gln44His) variant of POLG (DNA polymerase subunit gamma-1)
Q44H (p.Gln44His) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
Q44H (p.Gln44His) variant details
- p.Gln44His
- rs1596362738
- ClinGen CA393774490
- ClinVar RCV001912423
- Ensembl rs1596362738
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.21
- CADD 9.95
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)