p.Leu14 Ala16del variant of EGFR (Epidermal growth factor receptor)
p.Leu14 Ala16del in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu14 Ala16del variant details
- gnomAD 7-55019303-CAGCGC
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available