L18I (p.Leu18Ile) variant of EGFR (Epidermal growth factor receptor)
L18I (p.Leu18Ile) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L18I (p.Leu18Ile) variant details
- p.Leu18Ile
- ExAC rs754527029
- gnomAD rs754527029
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.15
- MetaLR 0.37
- MetaSVM -0.40
- CADD 13.40
- PolyPhen-2 0.03
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available