L32F (p.Leu32Phe) variant of POLE (Q07864)
L32F (p.Leu32Phe) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
L32F (p.Leu32Phe) variant details
- p.Leu32Phe
- rs781513537
- ClinGen CA6894448
- ClinVar RCV001281043
- ClinVar RCV003165639
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.08
- CADD 10.60
- PolyPhen-2 0.11
- SIFT 0.71
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)