A19E (p.Ala19Glu) variant of MAP2K1 (Q02750)
A19E (p.Ala19Glu) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A19E (p.Ala19Glu) variant details
- p.Ala19Glu
- gnomAD 15-66387403-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.47
- MetaLR 0.60
- MetaSVM -0.01
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.26
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.944
- Literature evidence available