A16D (p.Ala16Asp) variant of EGFR (Epidermal growth factor receptor)
A16D (p.Ala16Asp) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- gnomAD 7-55019324-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.53
- MetaLR 0.33
- MetaSVM -0.71
- CADD 12.70
- PolyPhen-2 0.08
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available