A9Q (p.Ala9Gln) variant of EGFR (Epidermal growth factor receptor)
A9Q (p.Ala9Gln) in EGFR (Epidermal growth factor receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A9Q (p.Ala9Gln) variant details
- p.Ala9Gln
- gnomAD 7-55019298-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 21.60
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available