S4S (p.Ser4Ser) variant of EGFR (Epidermal growth factor receptor)
S4S (p.Ser4Ser) in EGFR (Epidermal growth factor receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S4S (p.Ser4Ser) variant details
- p.Ser4Ser
- rs1171634506
- gnomAD 7-55019289-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 2.95
- 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
- Literature evidence available