F129L (p.Phe129Leu) variant of MAP2K1 (Q02750)
F129L (p.Phe129Leu) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Cardiofaciocutaneous syndrome 3. The record also includes structural context.
F129L (p.Phe129Leu) variant details
- p.Phe129Leu
- Ensembl rs2140584058
- Likely pathogenic
- Cardiofaciocutaneous syndrome 3
- Missense
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 3)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available