R34L (p.Arg34Leu) variant of POLE (Q07864)
R34L (p.Arg34Leu) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R34L (p.Arg34Leu) variant details
- p.Arg34Leu
- rs747005851
- ClinGen CA16613676
- NCI-TCGA Cosmic COSV5767
- cosmic curated COSV57673
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- REVEL 0.41
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-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)