E53* (p.Glu53Ter) variant of NOD1 (Q9Y239)
E53* (p.Glu53Ter) in NOD1 (Q9Y239) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E53* (p.Glu53Ter) variant details
- p.Glu53Ter
- 1000Genomes rs150782149
- ESP rs150782149
- ExAC rs150782149
- TOPMed rs150782149
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available