E26G (p.Glu26Gly) variant of EGFR (Epidermal growth factor receptor)
E26G (p.Glu26Gly) 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 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
E26G (p.Glu26Gly) variant details
- p.Glu26Gly
- rs2128853534
- ClinGen CA367611297
- ClinVar RCV002662880
- Ensembl rs2128853534
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.27
- MetaLR 0.52
- MetaSVM -0.25
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)