S4Y (p.Ser4Tyr) variant of EGFR (Epidermal growth factor receptor)
S4Y (p.Ser4Tyr) 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 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4Y (p.Ser4Tyr) variant details
- p.Ser4Tyr
- rs771210838
- ClinGen CA367611180
- ClinVar RCV001230654
- ClinVar RCV005809481
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.13
- MetaLR 0.35
- MetaSVM -0.69
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.8e-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)