S22C (p.Ser22Cys) variant of EGFR (Epidermal growth factor receptor)
S22C (p.Ser22Cys) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S22C (p.Ser22Cys) variant details
- p.Ser22Cys
- Ensembl rs2128853486
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.70
- CADD 16.10
- PolyPhen-2 0.17
- SIFT 0.38
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.0683