E27G (p.Glu27Gly) variant of MAP2K1 (Q02750)
E27G (p.Glu27Gly) in MAP2K1 (Q02750) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E27G (p.Glu27Gly) variant details
- p.Glu27Gly
- rs1429008529
- gnomAD 15-66401940-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.304
- CADD 14.40
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score -0.0788
- Literature evidence available