E96* (p.Glu96Ter) variant of UMOD (Uromodulin)
E96* (p.Glu96Ter) in UMOD (Uromodulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
E96* (p.Glu96Ter) variant details
- p.Glu96Ter
- rs1357689052
- ClinGen CA394986799
- ClinVar RCV000722306
- TOPMed rs1357689052
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 32.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available