E27Q (p.Glu27Gln) variant of NOD2 (Q9HC29)
E27Q (p.Glu27Gln) in NOD2 (Q9HC29) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
E27Q (p.Glu27Gln) variant details
- p.Glu27Gln
- gnomAD 16-50699492-T-TCA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.834
- CADD 28.80
- Population evidence available
- Structural context available
- Literature evidence available