A9E (p.Ala9Glu) variant of EGFR (Epidermal growth factor receptor)
A9E (p.Ala9Glu) in EGFR (Epidermal growth factor receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- TOPMed rs1583835979
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.46
- MetaLR 0.36
- MetaSVM -0.70
- CADD 8.38
- PolyPhen-2 0.02
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available