R8W (p.Arg8Trp) variant of POLE (Q07864)
R8W (p.Arg8Trp) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1196946399
- ClinGen CA387373477
- ClinVar RCV002442488
- ClinVar RCV003655197
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.12
- CADD 22.60
- PolyPhen-2 0.97
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)