Q46R (p.Gln46Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q46R (p.Gln46Arg) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
Q46R (p.Gln46Arg) variant details
- p.Gln46Arg
- rs1555454339
- ClinGen CA10602190
- ClinVar RCV000596845
- ClinVar RCV000758405
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.31
- CADD 6.72
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-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)