L32R (p.Leu32Arg) variant of POLE (Q07864)
L32R (p.Leu32Arg) 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 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L32R (p.Leu32Arg) variant details
- p.Leu32Arg
- rs878854900
- ClinGen CA10583033
- cosmic curated COSV57693
- ClinVar RCV002374369
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.21
- CADD 20.50
- PolyPhen-2 0.01
- SIFT 0.48
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-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)