L3V (p.Leu3Val) variant of POLE (Q07864)
L3V (p.Leu3Val) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
L3V (p.Leu3Val) variant details
- p.Leu3Val
- rs1018143132
- ClinGen CA246308283
- ClinVar RCV000550377
- ClinVar RCV003655117
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.04
- CADD 15.50
- PolyPhen-2 0.07
- SIFT 0.10
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00037)
- 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)