D46N (p.Asp46Asn) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
D46N (p.Asp46Asn) 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 0.77 / 1. The record also includes population frequency data and structural context.
D46N (p.Asp46Asn) variant details
- p.Asp46Asn
- cosmic curated COSV10585
- TOPMed rs956844670
- gnomAD rs956844670
- Uncertain significance
- Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 25.10
- PolyPhen-2 0.94
- SIFT 0.08
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available