E27* (p.Glu27Ter) variant of NOD2 (Q9HC29)
E27* (p.Glu27Ter) in NOD2 (Q9HC29) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
E27* (p.Glu27Ter) variant details
- p.Glu27Ter
- rs745597071
- gnomAD 16-50699565-G-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.845
- CADD 36.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available