Q83L (p.Gln83Leu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Q83L (p.Gln83Leu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial focal epilepsy with variable foci. The record also includes structural context.
Q83L (p.Gln83Leu) variant details
- p.Gln83Leu
- cosmic curated COSV56697
- Uncertain significance
- Familial focal epilepsy with variable foci
- Missense
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci)
- UniProt: Uncertain significance
- Structural context available