E27R (p.Glu27Arg) variant of MAP2K1 (Q02750)
E27R (p.Glu27Arg) in MAP2K1 (Q02750) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E27R (p.Glu27Arg) variant details
- p.Glu27Arg
- gnomAD 15-66387424-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.732
- CADD 24.80
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.0788
- Literature evidence available