Q44R (p.Gln44Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q44R (p.Gln44Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Progressive external ophthalmoplegia with mitochondrial. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
Q44R (p.Gln44Arg) variant details
- p.Gln44Arg
- rs757120802
- ClinGen CA241477
- ClinVar RCV000551143
- ClinVar RCV000724683
- Conflicting interpretations
- Inborn genetic diseases; Progressive external ophthalmoplegia with mitochondrial
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.19
- CADD 1.04
- PolyPhen-2 0.00
- SIFT 0.86
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Progressive external ophthalmoplegia wi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0054)
- 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)