G38R (p.Gly38Arg) variant of POLG (DNA polymerase subunit gamma-1)
G38R (p.Gly38Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- rs866945104
- ClinGen CA274566710
- cosmic curated COSV99174
- ClinVar RCV001757040
- Uncertain significance
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.18
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)