G4W (p.Gly4Trp) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
G4W (p.Gly4Trp) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G4W (p.Gly4Trp) variant details
- p.Gly4Trp
- ExAC rs768863821
- TOPMed rs768863821
- gnomAD rs768863821
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.14
- ESM-1b 1.00
- AlphaMissense 0.45
- MetaLR 0.05
- MetaSVM -1.10
- CADD 23.30
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.131