L12P (p.Leu12Pro) variant of EGFR (Epidermal growth factor receptor)
L12P (p.Leu12Pro) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L12P (p.Leu12Pro) variant details
- p.Leu12Pro
- Ensembl rs2128853389
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.57
- MetaLR 0.50
- MetaSVM -0.10
- CADD 22.60
- PolyPhen-2 0.45
- SIFT 0.05
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.13