Q52H (p.Gln52His) variant of POLG (DNA polymerase subunit gamma-1)
Q52H (p.Gln52His) 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 Inborn genetic diseases; not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q52H (p.Gln52His) variant details
- p.Gln52His
- rs587781117
- ClinGen CA7725182
- ClinVar RCV001589368
- ClinVar RCV001866118
- Uncertain significance
- Inborn genetic diseases; not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.27
- CADD 5.84
- PolyPhen-2 0.22
- SIFT 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Progressive sclerosing po)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 6.1e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)