R852C (p.Arg852Cys) variant of POLG (DNA polymerase subunit gamma-1)
R852C (p.Arg852Cys) 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 Inborn genetic diseases; Progressive sclerosing poliodystrophy; Progressive exte. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R852C (p.Arg852Cys) variant details
- p.Arg852Cys
- rs144500145
- ClinGen CA316701
- ClinVar RCV000188581
- ClinVar RCV000633537
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Progressive sclerosing poliodystrophy; Progressive exte
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- REVEL 0.99
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Progressive sclerosing poliodystrophy;)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Population evidence available
- Structural context available
- Cited in: Alpers syndrome with mutations in POLG: clinical and investigative features. (PMID 22000311)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)