A21E (p.Ala21Glu) variant of EGFR (Epidermal growth factor receptor)
A21E (p.Ala21Glu) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21E (p.Ala21Glu) variant details
- p.Ala21Glu
- TOPMed rs1194702075
- gnomAD rs1194702075
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.39
- MetaLR 0.33
- MetaSVM -0.83
- CADD 9.88
- PolyPhen-2 0.06
- SIFT 0.44
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.636