S4C (p.Ser4Cys) variant of EGFR (Epidermal growth factor receptor)
S4C (p.Ser4Cys) 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 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4C (p.Ser4Cys) variant details
- p.Ser4Cys
- rs771210838
- ClinGen CA367611181
- ClinVar RCV001880915
- ExAC rs771210838
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.19
- MetaLR 0.43
- MetaSVM -0.58
- CADD 15.40
- PolyPhen-2 0.20
- SIFT 0.12
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.6e-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)