G848S (p.Gly848Ser) variant of POLG (DNA polymerase subunit gamma-1)
G848S (p.Gly848Ser) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Possible mitochondrial disorder - nuclear genes; Mitochondrial DNA maintenance d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G848S (p.Gly848Ser) variant details
- p.Gly848Ser
- rs113994098
- ClinGen CA123144
- cosmic curated COSV99174
- ClinVar RCV000014449
- Pathogenic
- Possible mitochondrial disorder - nuclear genes; Mitochondrial DNA maintenance d
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.97
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Possible mitochondrial disorder - nuclear genes; Mitochondrial D)
- EBI: Pathogenic (in PEOB1, MTDPS4A, MTDPS4B and LS)
- UniProt: Pathogenic (in PEOB1, MTDPS4A, MTDPS4B and LS)
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive… (PMID 12210792)
- Cited in: Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. (PMID 12872260)