R208Q (p.Arg208Gln) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
R208Q (p.Arg208Gln) 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 Intellectual disability; Periventricular nodular heterotopia 7; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R208Q (p.Arg208Gln) variant details
- p.Arg208Gln
- rs2059194330
- ClinGen CA402552768
- cosmic curated COSV56840
- ClinVar RCV001072145
- Pathogenic/Likely pathogenic
- Intellectual disability; Periventricular nodular heterotopia 7; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.83
- MetaLR 0.79
- MetaSVM 0.69
- CADD 32.00
- ClinVar: Pathogenic/Likely pathogenic (Intellectual disability; Periventricular nodular heterotopia 7;)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly. (PMID 32117442)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)