G8W (p.Gly8Trp) variant of EGFR (Epidermal growth factor receptor)
G8W (p.Gly8Trp) 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 0.34 / 1. The record also includes population frequency data and structural context.
G8W (p.Gly8Trp) variant details
- p.Gly8Trp
- ExAC rs754259847
- TOPMed rs754259847
- gnomAD rs754259847
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.34
- MetaLR 0.48
- MetaSVM -0.64
- CADD 20.80
- PolyPhen-2 0.55
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.7e-05)
- Structural context available