E47G (p.Glu47Gly) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
E47G (p.Glu47Gly) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
E47G (p.Glu47Gly) variant details
- p.Glu47Gly
- rs2082129391
- ClinGen CA411279047
- ClinVar RCV001337786
- Ensembl rs2082129391
- Uncertain significance
- Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- AlphaMissense 0.34
- MetaLR 0.23
- MetaSVM -0.68
- PolyPhen-2 0.88
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available