G5W (p.Gly5Trp) variant of EGFR (Epidermal growth factor receptor)
G5W (p.Gly5Trp) 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 0.31 / 1. The record also includes population frequency data and structural context.
G5W (p.Gly5Trp) variant details
- p.Gly5Trp
- ExAC rs774487133
- gnomAD rs774487133
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.32
- MetaLR 0.54
- MetaSVM -0.52
- CADD 22.50
- PolyPhen-2 0.89
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available