L35Q (p.Leu35Gln) variant of POLE (Q07864)
L35Q (p.Leu35Gln) 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 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L35Q (p.Leu35Gln) variant details
- p.Leu35Gln
- rs2043161231
- ClinGen CA387370432
- ClinVar RCV002268419
- ClinVar RCV003541126
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.467
- REVEL 0.41
- CADD 26.50
- PolyPhen-2 0.71
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-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)