L12M (p.Leu12Met) variant of EGFR (Epidermal growth factor receptor)
L12M (p.Leu12Met) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L12M (p.Leu12Met) variant details
- p.Leu12Met
- TOPMed rs1786370184
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.35
- MetaLR 0.54
- MetaSVM 0.01
- CADD 21.50
- PolyPhen-2 0.45
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.13