E27V (p.Glu27Val) variant of MAP2K1 (Q02750)
E27V (p.Glu27Val) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E27V (p.Glu27Val) variant details
- p.Glu27Val
- TOPMed rs2093344208
- gnomAD rs2093344208
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- REVEL 0.67
- MetaLR 0.78
- MetaSVM 0.52
- CADD 26.30
- PolyPhen-2 0.77
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.0788