K25* (p.Lys25Ter) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
K25* (p.Lys25Ter) 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 0.23 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K25* (p.Lys25Ter) variant details
- p.Lys25Ter
- rs951921559
- gnomAD 18-58054871-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 11.70
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -0.692
- Literature evidence available