Q694H (p.Gln694His) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
Q694H (p.Gln694His) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Periventricular nodular heterotopia 7; Periventricular nodular heterotopia with. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes published literature and structural context.
Q694H (p.Gln694His) variant details
- p.Gln694His
- rs879255598
- ClinGen CA10576010
- ClinVar RCV000239730
- ClinVar RCV000258902
- Pathogenic
- Periventricular nodular heterotopia 7; Periventricular nodular heterotopia with
- Missense
- Variant Prioritization Score for Impact Estimate 0.622
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.31
- MetaSVM -0.47
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Periventricular nodular heterotopia 7; Periventricular nodular h)
- EBI: Pathogenic (in PVNH7)
- UniProt: Pathogenic (in PVNH7)
- Structural context available
- Cited in: Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular… (PMID 27694961)