G128V (p.Gly128Val) variant of MAP2K1 (Q02750)
G128V (p.Gly128Val) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Cardiofaciocutaneous syndrome 3; not provided. The record also includes experimental measurements, published literature, and structural context.
G128V (p.Gly128Val) variant details
- p.Gly128Val
- rs730880508
- ClinGen CA296125
- ClinVar RCV000158013
- Ensembl rs730880508
- Pathogenic/Likely pathogenic
- Cardiofaciocutaneous syndrome 3; not provided
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Cardiofaciocutaneous syndrome 3; not provided)
- EBI: Pathogenic (in CFC3)
- UniProt: Pathogenic (in CFC3)
- Structural context available
- Dabrafenib and Cetuximab HT-29 cells, base editing z-scores (predicted consequen: score 0.726
- Cited in: Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome. (PMID 18042262)