K59E (p.Lys59Glu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
K59E (p.Lys59Glu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial focal epilepsy with variable foci. The record also includes structural context.
K59E (p.Lys59Glu) variant details
- p.Lys59Glu
- rs2517797057
- ClinGen CA411279646
- ClinVar RCV003594975
- Uncertain significance
- Familial focal epilepsy with variable foci
- Missense
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available