L11F (p.Leu11Phe) variant of EGFR (Epidermal growth factor receptor)
L11F (p.Leu11Phe) in EGFR (Epidermal growth factor receptor) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- rs1786369664
- ClinGen CA367611214
- ClinVar RCV001907822
- ClinVar RCV002305629
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.20
- MetaLR 0.30
- MetaSVM -0.80
- CADD 12.10
- PolyPhen-2 0.00
- SIFT 0.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-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)