A7G (p.Ala7Gly) variant of EGFR (Epidermal growth factor receptor)
A7G (p.Ala7Gly) 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 and structural context.
A7G (p.Ala7Gly) variant details
- p.Ala7Gly
- Ensembl rs1786367350
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.17
- MetaLR 0.23
- MetaSVM -0.95
- CADD 12.50
- PolyPhen-2 0.00
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available