Q39R (p.Gln39Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q39R (p.Gln39Arg) 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 not specified; not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- rs749750052
- ClinGen CA316602
- ClinVar RCV000188523
- ClinVar RCV000723678
- Conflicting interpretations
- not specified; not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.19
- CADD 0.08
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Conflicting classifications of pathogenicity (not specified; not provided; Progressive sclerosing poliodystrop)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0053)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)