Q62* (p.Gln62Ter) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
Q62* (p.Gln62Ter) 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 0.08 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Q62* (p.Gln62Ter) variant details
- p.Gln62Ter
- gnomAD 18-58091493-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.0815
- CADD 0.12
- Population evidence available
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.748
- Literature evidence available