E3* (p.Glu3Ter) variant of NOD2 (Q9HC29)
E3* (p.Glu3Ter) in NOD2 (Q9HC29) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
E3* (p.Glu3Ter) variant details
- p.Glu3Ter
- gnomAD 16-50697250-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 33.00
- Population evidence available
- Structural context available
- Literature evidence available