E893K (p.Glu893Lys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E893K (p.Glu893Lys) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Periventricular nodular heterotopia 7; Chromosome 5Q14.3 deletion syndrome, dist. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
E893K (p.Glu893Lys) variant details
- p.Glu893Lys
- rs879255597
- ClinGen CA10576011
- NCI-TCGA Cosmic COSV5684
- cosmic curated COSV56842
- Pathogenic/Likely pathogenic
- Periventricular nodular heterotopia 7; Chromosome 5Q14.3 deletion syndrome, dist
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.60
- ESM-1b 1.00
- AlphaMissense 0.99
- MetaLR 0.36
- MetaSVM -0.24
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Periventricular nodular heterotopia 7; Chromosome 5Q14.3 deletio)
- EBI: Pathogenic (in PVNH7)
- UniProt: Pathogenic (in PVNH7)
- Population evidence available
- Structural context available
- Cited in: Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular… (PMID 27694961)
- Cited in: A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia… (PMID 28515470)