Q10K (p.Gln10Lys) variant of MAP2K1 (Q02750)
Q10K (p.Gln10Lys) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q10K (p.Gln10Lys) variant details
- p.Gln10Lys
- gnomAD 15-66387375-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.34
- MetaLR 0.51
- MetaSVM -0.31
- CADD 18.70
- PolyPhen-2 0.01
- SIFT 0.91
- Population evidence available
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score -0.0136
- Literature evidence available