A2D (p.Ala2Asp) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
A2D (p.Ala2Asp) in NEDD4L (E3 ubiquitin-protein ligase NEDD4-like) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A2D (p.Ala2Asp) variant details
- p.Ala2Asp
- gnomAD 18-58091451-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 0.05
- Population evidence available
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.601
- Literature evidence available