Q10R (p.Gln10Arg) variant of MAP2K1 (Q02750)
Q10R (p.Gln10Arg) 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.
Q10R (p.Gln10Arg) variant details
- p.Gln10Arg
- gnomAD 15-66387376-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.30
- MetaLR 0.56
- MetaSVM -0.19
- CADD 22.20
- PolyPhen-2 0.02
- SIFT 0.53
- Population evidence available
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score -0.0136
- Literature evidence available