G7E (p.Gly7Glu) variant of POLE (Q07864)
G7E (p.Gly7Glu) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G7E (p.Gly7Glu) variant details
- p.Gly7Glu
- rs929537284
- ClinGen CA246308267
- ClinVar RCV003656677
- ClinVar RCV004545139
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.04
- CADD 15.50
- PolyPhen-2 0.04
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- 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)