G8E (p.Gly8Glu) variant of EGFR (Epidermal growth factor receptor)
G8E (p.Gly8Glu) 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 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
G8E (p.Gly8Glu) variant details
- p.Gly8Glu
- rs1786368377
- ClinGen CA367611197
- ClinVar RCV003881789
- ClinVar RCV006382227
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.32
- MetaLR 0.33
- MetaSVM -0.66
- CADD 16.30
- PolyPhen-2 0.08
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.8e-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)