R232H (p.Arg232His) variant of POLG (DNA polymerase subunit gamma-1)
R232H (p.Arg232His) 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; not provided; Progressive sclerosing polio. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
R232H (p.Arg232His) variant details
- p.Arg232His
- rs113994093
- ClinGen CA341891
- ClinVar RCV000020483
- ClinVar RCV000412961
- Pathogenic
- Mitochondrial DNA depletion syndrome; not provided; Progressive sclerosing polio
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.86
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Pathogenic (Mitochondrial DNA depletion syndrome; not provided; Progressive)
- EBI: Pathogenic (in LS)
- UniProt: Pathogenic (in LS)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. (PMID 18828154)
- Cited in: The exonuclease activity of DNA polymerase γ is required for ligation during mitochondrial DNA replication. (PMID 26095671)