I9S (p.Ile9Ser) variant of MAP2K1 (Q02750)
I9S (p.Ile9Ser) in MAP2K1 (Q02750) is a protein-truncating 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, published literature, and structural context.
I9S (p.Ile9Ser) variant details
- p.Ile9Ser
- gnomAD 15-66387367-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.66
- CADD 27.80
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.0261
- Literature evidence available