C19F (p.Cys19Phe) variant of EGFR (Epidermal growth factor receptor)
C19F (p.Cys19Phe) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C19F (p.Cys19Phe) variant details
- p.Cys19Phe
- gnomAD 7-55019333-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.20
- MetaLR 0.28
- MetaSVM -0.82
- CADD 4.83
- PolyPhen-2 0.00
- SIFT 0.35
- Most common in the REMAINING population (allele frequency 1.8e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.838
- Literature evidence available