A10G (p.Ala10Gly) variant of EGFR (Epidermal growth factor receptor)
A10G (p.Ala10Gly) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of EGFR-related lung cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A10G (p.Ala10Gly) variant details
- p.Ala10Gly
- rs1217714114
- ClinGen CA367611210
- ClinVar RCV001202789
- TOPMed rs1217714114
- Uncertain significance
- EGFR-related lung cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.18
- MetaLR 0.31
- MetaSVM -0.79
- CADD 12.80
- PolyPhen-2 0.01
- SIFT 0.30
- ClinVar: Uncertain significance (EGFR-related lung cancer)
- 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)