R37Q (p.Arg37Gln) variant of POLE (Q07864)
R37Q (p.Arg37Gln) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
R37Q (p.Arg37Gln) variant details
- p.Arg37Gln
- rs377002290
- ClinGen CA6894442
- ClinVar RCV001585629
- ClinVar RCV005268716
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.28
- CADD 22.30
- PolyPhen-2 0.01
- SIFT 0.56
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 7.5e-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)