p.Leu12 Leu18del variant of EGFR (Epidermal growth factor receptor)
p.Leu12 Leu18del in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Leu12 Leu18del variant details
- rs2128853380
- gnomAD 7-55019304-AGCGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 17.00
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.13
- Literature evidence available