C69* (p.Cys69Ter) variant of UMOD (Uromodulin)
C69* (p.Cys69Ter) in UMOD (Uromodulin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
C69* (p.Cys69Ter) variant details
- p.Cys69Ter
- TOPMed rs1218858441
- gnomAD rs1218858441
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available