F53Y (p.Phe53Tyr) variant of MAP2K1 (Q02750)
F53Y (p.Phe53Tyr) 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 variant effect predictions and structural context.
F53Y (p.Phe53Tyr) variant details
- p.Phe53Tyr
- Ensembl rs121908594
- Likely pathogenic
- Cardiofaciocutaneous syndrome 3
- Missense
- MetaLR 0.85
- MetaSVM 0.74
- SIFT 0.04
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 3)
- EBI: Pathogenic (in CFC3)
- UniProt: Pathogenic (in CFC3)
- Structural context available