A52P (p.Ala52Pro) variant of MAP2K1 (Q02750)
A52P (p.Ala52Pro) 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 experimental measurements and structural context.
A52P (p.Ala52Pro) variant details
- p.Ala52Pro
- Ensembl rs2140578863
- Likely pathogenic
- Cardiofaciocutaneous syndrome 3
- Missense
- ClinVar: Likely pathogenic (Cardiofaciocutaneous syndrome 3)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Trametinib HT-29 cells, base editing z-scores (predicted consequence): score 1.42