R807H (p.Arg807His) variant of POLG (DNA polymerase subunit gamma-1)
R807H (p.Arg807His) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal. 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.
R807H (p.Arg807His) variant details
- p.Arg807His
- rs796052887
- ClinGen CA316691
- cosmic curated COSV10726
- ClinVar RCV000188575
- Pathogenic/Likely pathogenic
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.97
- CADD 29.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Progressive external ophthalmoplegia with mitochondrial DNA dele)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)