R101* (p.Arg101Ter) variant of NEDD4L (E3 ubiquitin-protein ligase NEDD4-like)
R101* (p.Arg101Ter) 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 0.68 / 1. The record also includes population frequency data and structural context.
R101* (p.Arg101Ter) variant details
- p.Arg101Ter
- TOPMed rs1383776547
- gnomAD rs1383776547
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 38.00
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available