R574W (p.Arg574Trp) variant of POLG (DNA polymerase subunit gamma-1)
R574W (p.Arg574Trp) 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.
R574W (p.Arg574Trp) variant details
- p.Arg574Trp
- rs774474723
- ClinGen CA7724702
- ClinVar RCV002007520
- ClinVar RCV003322908
- Pathogenic
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- Cited in: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (PMID 16621917)
- Cited in: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. (PMID 11431686)