E7* (p.Glu7Ter) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E7* (p.Glu7Ter) 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 0.85 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E7* (p.Glu7Ter) variant details
- p.Glu7Ter
- Ensembl rs1297376280
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.847
- CADD 44.00
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.395