S4F (p.Ser4Phe) variant of EGFR (Epidermal growth factor receptor)
S4F (p.Ser4Phe) 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 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4F (p.Ser4Phe) variant details
- p.Ser4Phe
- rs771210838
- ClinGen CA4265098
- ClinVar RCV001934060
- ExAC rs771210838
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.13
- MetaLR 0.35
- MetaSVM -0.69
- CADD 11.50
- PolyPhen-2 0.00
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.178
- 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)