C19R (p.Cys19Arg) variant of EGFR (Epidermal growth factor receptor)
C19R (p.Cys19Arg) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C19R (p.Cys19Arg) variant details
- p.Cys19Arg
- gnomAD 7-55019332-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.14
- MetaLR 0.33
- MetaSVM -0.87
- CADD 9.30
- PolyPhen-2 0.01
- SIFT 0.34
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.838
- Literature evidence available