R24S (p.Arg24Ser) variant of POLG (DNA polymerase subunit gamma-1)
R24S (p.Arg24Ser) 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 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R24S (p.Arg24Ser) variant details
- p.Arg24Ser
- rs1196273210
- ClinGen CA393774982
- ClinVar RCV001219852
- TOPMed rs1196273210
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.528
- REVEL 0.40
- CADD 23.50
- PolyPhen-2 0.18
- SIFT 0.00
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)