G23R (p.Gly23Arg) variant of POLG (DNA polymerase subunit gamma-1)
G23R (p.Gly23Arg) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- rs1422899388
- ClinGen CA393774995
- cosmic curated COSV51525
- ClinVar RCV002048453
- Uncertain significance
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.14
- CADD 14.70
- PolyPhen-2 0.01
- SIFT 0.48
- ClinVar: Uncertain significance (not provided; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)