L11M (p.Leu11Met) variant of MAP2K1 (Q02750)
L11M (p.Leu11Met) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L11M (p.Leu11Met) variant details
- p.Leu11Met
- gnomAD 15-66387378-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.40
- MetaLR 0.70
- MetaSVM 0.13
- CADD 21.70
- PolyPhen-2 0.38
- SIFT 0.04
- Population evidence available
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score -0.63
- Literature evidence available