K56E (p.Lys56Glu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
K56E (p.Lys56Glu) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K56E (p.Lys56Glu) variant details
- p.Lys56Glu
- TOPMed rs2082314898
- gnomAD rs2082314898
- Uncertain significance
- Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 27.00
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available