A17E (p.Ala17Glu) variant of EGFR (Epidermal growth factor receptor)
A17E (p.Ala17Glu) 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, published literature, and structural context.
A17E (p.Ala17Glu) variant details
- p.Ala17Glu
- gnomAD 7-55019327-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.41
- MetaLR 0.31
- MetaSVM -0.81
- CADD 11.90
- PolyPhen-2 0.04
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available