R2Q (p.Arg2Gln) variant of EGFR (Epidermal growth factor receptor)
R2Q (p.Arg2Gln) 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 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R2Q (p.Arg2Gln) variant details
- p.Arg2Gln
- rs2128853278
- ClinGen CA367611170
- cosmic curated COSV51794
- ClinVar RCV001937606
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.26
- MetaLR 0.35
- MetaSVM -0.40
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- 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)