R8Q (p.Arg8Gln) variant of POLE (Q07864)
R8Q (p.Arg8Gln) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs2136052243
- ClinGen CA387373474
- ClinVar RCV003541374
- ClinVar RCV005262432
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.09
- CADD 20.80
- PolyPhen-2 0.89
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- 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)