S22N (p.Ser22Asn) variant of EGFR (Epidermal growth factor receptor)
S22N (p.Ser22Asn) 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 0.22 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S22N (p.Ser22Asn) variant details
- p.Ser22Asn
- rs1257423707
- ClinGen CA367611276
- ClinVar RCV003649500
- TOPMed rs1257423707
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.06
- MetaLR 0.29
- MetaSVM -0.87
- CADD 13.80
- PolyPhen-2 0.01
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.0683
- 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)