A16L (p.Ala16Leu) variant of EGFR (Epidermal growth factor receptor)
A16L (p.Ala16Leu) in EGFR (Epidermal growth factor receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A16L (p.Ala16Leu) variant details
- p.Ala16Leu
- gnomAD 7-55019321-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 22.60
- Population evidence available
- Structural context available
- Literature evidence available