R943C (p.Arg943Cys) variant of POLG (DNA polymerase subunit gamma-1)
R943C (p.Arg943Cys) 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 not provided; Possible mitochondrial disorder - nuclear genes; Progressive scler. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
R943C (p.Arg943Cys) variant details
- p.Arg943Cys
- rs1567186614
- ClinGen CA10602242
- ClinVar RCV000758264
- ClinVar RCV001546612
- Pathogenic/Likely pathogenic
- not provided; Possible mitochondrial disorder - nuclear genes; Progressive scler
- Missense
- Variant Prioritization Score for Impact Estimate 0.87
- REVEL 0.97
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Possible mitochondrial disorder - nuclear genes; P)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Genetic analysis of two Japanese families with progressive external ophthalmoplegia and parkinsonism. (PMID 21301859)
- Cited in: POLG-Related Disorders. (PMID 20301791)