S4P (p.Ser4Pro) variant of EGFR (Epidermal growth factor receptor)
S4P (p.Ser4Pro) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S4P (p.Ser4Pro) variant details
- p.Ser4Pro
- Ensembl rs2128853297
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.21
- MetaLR 0.37
- MetaSVM -0.66
- CADD 19.00
- PolyPhen-2 0.06
- SIFT 0.30
- 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