C19* (p.Cys19Ter) variant of EGFR (Epidermal growth factor receptor)
C19* (p.Cys19Ter) in EGFR (Epidermal growth factor receptor) is a protein-truncating 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.
C19* (p.Cys19Ter) variant details
- p.Cys19Ter
- Ensembl rs866936692
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.307
- CADD 32.00
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.838