A21G (p.Ala21Gly) variant of EGFR (Epidermal growth factor receptor)
A21G (p.Ala21Gly) 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 0.19 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- TOPMed rs1194702075
- gnomAD rs1194702075
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.12
- MetaLR 0.32
- MetaSVM -0.89
- CADD 7.74
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.636