L12R (p.Leu12Arg) variant of EGFR (Epidermal growth factor receptor)
L12R (p.Leu12Arg) in EGFR (Epidermal growth factor receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L12R (p.Leu12Arg) variant details
- p.Leu12Arg
- gnomAD 7-55019311-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.321
- CADD 20.80
- Most common in the East Asian population (allele frequency 3.2e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.13
- Literature evidence available