C19W (p.Cys19Trp) variant of EGFR (Epidermal growth factor receptor)
C19W (p.Cys19Trp) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C19W (p.Cys19Trp) variant details
- p.Cys19Trp
- gnomAD 7-55019334-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.21
- MetaLR 0.38
- MetaSVM -0.76
- CADD 11.80
- PolyPhen-2 0.03
- SIFT 0.13
- 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 0.838
- Literature evidence available