G7R (p.Gly7Arg) variant of POLE (Q07864)
G7R (p.Gly7Arg) 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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
G7R (p.Gly7Arg) variant details
- p.Gly7Arg
- rs771930571
- ClinGen CA6894471
- ClinVar RCV002422829
- ClinVar RCV003539328
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.09
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 5.3e-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)