L32P (p.Leu32Pro) variant of POLE (Q07864)
L32P (p.Leu32Pro) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L32P (p.Leu32Pro) variant details
- p.Leu32Pro
- rs878854900
- ClinGen CA387370512
- ClinVar RCV005091279
- ClinVar RCV005260230
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.17
- CADD 22.30
- PolyPhen-2 0.17
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- 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)