Q45R (p.Gln45Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q45R (p.Gln45Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Inborn genetic diseases; not specified; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
Q45R (p.Gln45Arg) variant details
- p.Gln45Arg
- rs201016638
- ClinGen CA302810
- cosmic curated COSV51521
- ClinVar RCV000175733
- Benign/Likely benign
- Inborn genetic diseases; not specified; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.25
- CADD 6.88
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Benign/Likely benign (Inborn genetic diseases; not specified; Progressive sclerosing p)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ESN population (allele frequency 0.034)
- 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)