S22I (p.Ser22Ile) variant of EGFR (Epidermal growth factor receptor)
S22I (p.Ser22Ile) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- gnomAD 7-55019342-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.09
- MetaLR 0.31
- MetaSVM -0.83
- CADD 15.60
- PolyPhen-2 0.00
- SIFT 0.16
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.0683
- Literature evidence available