R853W (p.Arg853Trp) variant of POLG (DNA polymerase subunit gamma-1)
R853W (p.Arg853Trp) 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 Mitochondrial DNA depletion syndrome; Progressive external ophthalmoplegia with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R853W (p.Arg853Trp) variant details
- p.Arg853Trp
- rs121918053
- ClinGen CA256899
- ClinVar RCV000014466
- ClinVar RCV000560575
- Conflicting interpretations
- Mitochondrial DNA depletion syndrome; Progressive external ophthalmoplegia with
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- REVEL 0.88
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Mitochondrial DNA depletion syndrome; Progressive external ophth)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a… (PMID 16401742)
- Cited in: Early-onset familial parkinsonism due to POLG mutations. (PMID 16634032)