C59* (p.Cys59Ter) variant of NOD1 (Q9Y239)
C59* (p.Cys59Ter) in NOD1 (Q9Y239) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
C59* (p.Cys59Ter) variant details
- p.Cys59Ter
- TOPMed rs1157820719
- gnomAD rs1157820719
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available