R943H (p.Arg943His) variant of POLG (DNA polymerase subunit gamma-1)
R943H (p.Arg943His) 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 not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R943H (p.Arg943His) variant details
- p.Arg943His
- rs1567186613
- ClinGen CA10602243
- cosmic curated COSV51521
- ClinVar RCV000758265
- Pathogenic
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.96
- CADD 28.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in PEOA1)
- UniProt: Pathogenic (in PEOA1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive… (PMID 12210792)
- Cited in: POLG-Related Disorders. (PMID 20301791)