E54D (p.Glu54Asp) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E54D (p.Glu54Asp) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E54D (p.Glu54Asp) variant details
- p.Glu54Asp
- TOPMed rs1452110886
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.08
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.19
- MetaSVM -0.92
- CADD 15.70
- Population evidence available
- Structural context available