E12* (p.Glu12Ter) variant of NOD2 (Q9HC29)
E12* (p.Glu12Ter) in NOD2 (Q9HC29) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
E12* (p.Glu12Ter) variant details
- p.Glu12Ter
- gnomAD 16-50697277-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.511
- CADD 26.10
- Population evidence available
- Structural context available
- Literature evidence available