G14R (p.Gly14Arg) variant of POLE (Q07864)
G14R (p.Gly14Arg) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
G14R (p.Gly14Arg) variant details
- p.Gly14Arg
- rs2542221939
- ClinGen CA2697551655
- ClinVar RCV003542257
- ClinVar RCV005714977
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)