R23L (p.Arg23Leu) variant of EGFR (Epidermal growth factor receptor)
R23L (p.Arg23Leu) 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 0.16 / 1. The record also includes population frequency data and structural context.
R23L (p.Arg23Leu) variant details
- p.Arg23Leu
- Ensembl rs1786374080
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.98
- CADD 8.91
- PolyPhen-2 0.00
- SIFT 0.69
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available