R309C (p.Arg309Cys) variant of POLG (DNA polymerase subunit gamma-1)
R309C (p.Arg309Cys) 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 Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
R309C (p.Arg309Cys) variant details
- p.Arg309Cys
- rs886041592
- ClinGen CA10603352
- ClinVar RCV000292336
- ClinVar RCV000985201
- Pathogenic
- Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.93
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Progressive sclerosing poliodystrophy; Progressive external opht)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Mitochondrial Neurogastrointestinal Encephalopathy Disease. (PMID 20301358)
- Cited in: POLG-Related Disorders. (PMID 20301791)