R953C (p.Arg953Cys) variant of POLG (DNA polymerase subunit gamma-1)
R953C (p.Arg953Cys) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of POLG-related disorder; not provided; Progressive sclerosing poliodystrophy. 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.
R953C (p.Arg953Cys) variant details
- p.Arg953Cys
- rs11546842
- ClinGen CA241026
- ClinVar RCV000175301
- ClinVar RCV000758266
- Conflicting interpretations
- POLG-related disorder; not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.872
- REVEL 0.98
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (POLG-related disorder; not provided; Progressive sclerosing poli)
- EBI: Pathogenic (in PEOA1)
- UniProt: Pathogenic (in PEOA1)
- Most common in the African/African-American population (allele frequency 0.00036)
- Structural context available
- Cited in: Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic… (PMID 15351195)
- Cited in: POLG-Related Disorders. (PMID 20301791)