R807P (p.Arg807Pro) variant of POLG (DNA polymerase subunit gamma-1)
R807P (p.Arg807Pro) 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 Mitochondrial DNA depletion syndrome; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
R807P (p.Arg807Pro) variant details
- p.Arg807Pro
- rs796052887
- ClinGen CA393756188
- ClinVar RCV003516369
- ClinVar RCV006269856
- Pathogenic
- Mitochondrial DNA depletion syndrome; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.913
- REVEL 0.99
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Mitochondrial DNA depletion syndrome; Progressive sclerosing pol)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. (PMID 14635118)
- Cited in: POLG-Related Disorders. (PMID 20301791)