G737R (p.Gly737Arg) variant of POLG (DNA polymerase subunit gamma-1)
G737R (p.Gly737Arg) 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 Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with. 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.
G737R (p.Gly737Arg) variant details
- p.Gly737Arg
- rs121918054
- ClinGen CA201029
- cosmic curated COSV10457
- ClinVar RCV000014467
- Pathogenic/Likely pathogenic
- Progressive sclerosing poliodystrophy; Progressive external ophthalmoplegia with
- Missense
- Variant Prioritization Score for Impact Estimate 0.873
- REVEL 0.94
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Progressive sclerosing poliodystrophy; Progressive external opht)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Population evidence available
- Structural context available
- Cited in: Early-onset familial parkinsonism due to POLG mutations. (PMID 16634032)
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)