G128A (p.Gly128Ala) variant of MAP2K1 (Q02750)
G128A (p.Gly128Ala) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Cardiofaciocutaneous syndrome 3. The record also includes experimental measurements and structural context.
G128A (p.Gly128Ala) variant details
- p.Gly128Ala
- rs2545053913
- ClinGen CA2580089884
- ClinVar RCV002909441
- Pathogenic
- Cardiofaciocutaneous syndrome 3
- Missense
- ClinVar: Pathogenic (Cardiofaciocutaneous syndrome 3)
- EBI: Variant of uncertain significance (in CFC3)
- UniProt: Uncertain significance (in CFC3)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.726