R9Q (p.Arg9Gln) variant of POLE (Q07864)
R9Q (p.Arg9Gln) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R9Q (p.Arg9Gln) variant details
- p.Arg9Gln
- rs2043298739
- ClinGen CA387373463
- ClinVar RCV003160459
- ClinVar RCV003656330
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.157
- REVEL 0.01
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.29
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.7e-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)