R8G (p.Arg8Gly) variant of POLE (Q07864)
R8G (p.Arg8Gly) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R8G (p.Arg8Gly) variant details
- p.Arg8Gly
- rs1196946399
- ClinGen CA387373480
- ClinVar RCV003540922
- ClinVar RCV005260403
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.10
- CADD 22.80
- PolyPhen-2 0.93
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)