Y679C (p.Tyr679Cys) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
Y679C (p.Tyr679Cys) 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 0.69 / 1. The record also includes published literature and structural context.
Y679C (p.Tyr679Cys) variant details
- p.Tyr679Cys
- rs879255599
- ClinGen CA10576009
- ClinVar RCV000239744
- ClinVar RCV000258910
- Pathogenic
- Periventricular nodular heterotopia 7; Periventricular nodular heterotopia with
- Missense
- Variant Prioritization Score for Impact Estimate 0.686
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.45
- MetaSVM 0.12
- 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)