E7S (p.Glu7Ser) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E7S (p.Glu7Ser) 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 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E7S (p.Glu7Ser) variant details
- p.Glu7Ser
- gnomAD 18-58044675-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.267
- CADD 26.30
- Population evidence available
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.395
- Literature evidence available