K52E (p.Lys52Glu) variant of MAP2K2 (P36507)
K52E (p.Lys52Glu) in MAP2K2 (P36507) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
K52E (p.Lys52Glu) variant details
- p.Lys52Glu
- ESP rs374336702
- ExAC rs374336702
- TOPMed rs374336702
- gnomAD rs374336702
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available