W17* (p.Trp17Ter) variant of UMOD (Uromodulin)
W17* (p.Trp17Ter) in UMOD (Uromodulin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
W17* (p.Trp17Ter) variant details
- p.Trp17Ter
- TOPMed rs1421859547
- gnomAD rs1421859547
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.507
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available