A19P (p.Ala19Pro) variant of MAP2K1 (Q02750)
A19P (p.Ala19Pro) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A19P (p.Ala19Pro) variant details
- p.Ala19Pro
- gnomAD 15-66387402-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.48
- MetaLR 0.56
- MetaSVM -0.03
- CADD 22.80
- PolyPhen-2 0.27
- SIFT 0.28
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.944
- Literature evidence available