C19S (p.Cys19Ser) variant of EGFR (Epidermal growth factor receptor)
C19S (p.Cys19Ser) 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, experimental measurements, published literature, and structural context.
C19S (p.Cys19Ser) variant details
- p.Cys19Ser
- rs780865931
- ClinGen CA4265110
- ClinVar RCV002662477
- ExAC rs780865931
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.12
- MetaLR 0.33
- MetaSVM -0.94
- CADD 7.24
- PolyPhen-2 0.00
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.838
- 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)