R23Q (p.Arg23Gln) variant of EGFR (Epidermal growth factor receptor)
R23Q (p.Arg23Gln) 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- rs1786374080
- ClinGen CA367611280
- ClinVar RCV002993650
- Ensembl rs1786374080
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.10
- MetaLR 0.18
- MetaSVM -0.99
- CADD 9.59
- PolyPhen-2 0.00
- SIFT 0.57
- 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)