R4G (p.Arg4Gly) variant of POLE (Q07864)
R4G (p.Arg4Gly) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R4G (p.Arg4Gly) variant details
- p.Arg4Gly
- rs1010746038
- ClinGen CA246308278
- ClinVar RCV003539919
- ClinVar RCV005463020
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.02
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.8e-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)