L12Q (p.Leu12Gln) variant of EGFR (Epidermal growth factor receptor)
L12Q (p.Leu12Gln) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L12Q (p.Leu12Gln) variant details
- p.Leu12Gln
- gnomAD 7-55019312-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.56
- MetaLR 0.44
- MetaSVM -0.21
- CADD 18.80
- PolyPhen-2 0.12
- SIFT 0.01
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.13
- Literature evidence available