E16E (p.Glu16Glu) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
E16E (p.Glu16Glu) 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 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E16E (p.Glu16Glu) variant details
- p.Glu16Glu
- rs1183439681
- gnomAD 18-58044708-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.596
- CADD 19.90
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available
- NEDD4L WW domain domainome 1.0: score -1.57
- Literature evidence available