E2K (p.Glu2Lys) variant of DCX (O43602)
E2K (p.Glu2Lys) in DCX (O43602) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- rs2524860121
- ClinGen CA414247340
- ClinVar RCV003560297
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available