Q52K (p.Gln52Lys) variant of POLG (DNA polymerase subunit gamma-1)
Q52K (p.Gln52Lys) 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 POLG-related disorder; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q52K (p.Gln52Lys) variant details
- p.Gln52Lys
- rs376683989
- ClinGen CA316623
- ClinVar RCV000758285
- ClinVar RCV000992680
- Conflicting interpretations
- POLG-related disorder; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.28
- CADD 0.41
- PolyPhen-2 0.04
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (POLG-related disorder; Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- 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)