G8A (p.Gly8Ala) variant of EGFR (Epidermal growth factor receptor)
G8A (p.Gly8Ala) 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 0.24 / 1. The record also includes population frequency data and structural context.
G8A (p.Gly8Ala) variant details
- p.Gly8Ala
- Ensembl rs1786368377
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- REVEL 0.20
- MetaLR 0.38
- MetaSVM -0.82
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available