C19Y (p.Cys19Tyr) variant of EGFR (Epidermal growth factor receptor)
C19Y (p.Cys19Tyr) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C19Y (p.Cys19Tyr) variant details
- p.Cys19Tyr
- ExAC rs780865931
- gnomAD rs780865931
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.22
- MetaLR 0.31
- MetaSVM -0.81
- CADD 2.35
- PolyPhen-2 0.00
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.838