E26V (p.Glu26Val) variant of EGFR (Epidermal growth factor receptor)
E26V (p.Glu26Val) 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 0.43 / 1. The record also includes population frequency data and structural context.
E26V (p.Glu26Val) variant details
- p.Glu26Val
- Ensembl rs2128853534
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.39
- MetaLR 0.51
- MetaSVM -0.23
- CADD 23.90
- PolyPhen-2 0.05
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available