Q34* (p.Gln34Ter) variant of MAP2K1 (Q02750)
Q34* (p.Gln34Ter) in MAP2K1 (Q02750) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q34* (p.Gln34Ter) variant details
- p.Gln34Ter
- Ensembl rs2140578466
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.875
- CADD 39.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.828