Q39R (p.Gln39Arg) variant of POLE (Q07864)
Q39R (p.Gln39Arg) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q39R (p.Gln39Arg) variant details
- p.Gln39Arg
- rs1467498021
- ClinGen CA387370304
- ClinVar RCV003156413
- ClinVar RCV005467936
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.24
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)