V90I (p.Val90Ile) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V90I (p.Val90Ile) 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 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V90I (p.Val90Ile) variant details
- p.Val90Ile
- rs768456731
- ClinGen CA10195891
- ClinVar RCV000254602
- ClinVar RCV000656067
- Uncertain significance
- Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- CADD 23.70
- PolyPhen-2 0.04
- SIFT 0.05
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci)
- EBI: Pathogenic (in FFEVF1)
- UniProt: Pathogenic (in FFEVF1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: DEPDC5 mutations in genetic focal epilepsies of childhood. (PMID 24591017)
- Cited in: Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. (PMID 25366275)