R23W (p.Arg23Trp) variant of EGFR (Epidermal growth factor receptor)
R23W (p.Arg23Trp) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R23W (p.Arg23Trp) variant details
- p.Arg23Trp
- rs987102148
- ClinGen CA159566184
- cosmic curated COSV51807
- ClinVar RCV002611256
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.22
- MetaLR 0.20
- MetaSVM -0.94
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 7.3e-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)