L12L (p.Leu12Leu) variant of EGFR (Epidermal growth factor receptor)
L12L (p.Leu12Leu) in EGFR (Epidermal growth factor receptor) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs1786370184
- gnomAD 7-55019311-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 9.27
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.13
- Literature evidence available