A19S (p.Ala19Ser) variant of MAP2K1 (Q02750)
A19S (p.Ala19Ser) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- gnomAD 15-66387402-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.37
- MetaLR 0.45
- MetaSVM -0.40
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.944
- Literature evidence available