R2L (p.Arg2Leu) variant of EGFR (Epidermal growth factor receptor)
R2L (p.Arg2Leu) 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 0.33 / 1. The record also includes population frequency data and structural context.
R2L (p.Arg2Leu) variant details
- p.Arg2Leu
- Ensembl rs2128853278
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.24
- MetaLR 0.35
- MetaSVM -0.37
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available