E4* (p.Glu4Ter) variant of NOD2 (Q9HC29)
E4* (p.Glu4Ter) in NOD2 (Q9HC29) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
E4* (p.Glu4Ter) variant details
- p.Glu4Ter
- gnomAD 16-50697253-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available