E8K (p.Glu8Lys) variant of MAX (Protein max)
E8K (p.Glu8Lys) in MAX (Protein max) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
E8K (p.Glu8Lys) variant details
- p.Glu8Lys
- cosmic curated COSV52415
- ExAC rs752477890
- gnomAD rs752477890
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available