Q53H (p.Gln53His) variant of POLG (DNA polymerase subunit gamma-1)
Q53H (p.Gln53His) 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; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q53H (p.Gln53His) variant details
- p.Gln53His
- rs587781118
- ClinGen CA10602197
- ClinVar RCV000758287
- ClinVar RCV004027157
- Uncertain significance
- Inborn genetic diseases; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.40
- CADD 6.96
- PolyPhen-2 0.03
- SIFT 0.13
- ClinVar: Uncertain significance (Inborn genetic diseases; Progressive sclerosing poliodystrophy)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- 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)