L18F (p.Leu18Phe) variant of EGFR (Epidermal growth factor receptor)
L18F (p.Leu18Phe) in EGFR (Epidermal growth factor receptor) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
L18F (p.Leu18Phe) variant details
- p.Leu18Phe
- rs754527029
- ClinGen CA4265109
- ClinVar RCV001042316
- ClinVar RCV005821865
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.15
- MetaLR 0.35
- MetaSVM -0.36
- CADD 14.20
- PolyPhen-2 0.04
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 8e-05)
- Structural context available
- Cited in: Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors… (PMID 23562183)
- Cited in: Treatment of stage IV non-small cell lung cancer: Diagnosis and management of lung cancer, 3rd ed: American College of… (PMID 23649446)