Q40* (p.Gln40Ter) variant of NOD2 (Q9HC29)
Q40* (p.Gln40Ter) in NOD2 (Q9HC29) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
Q40* (p.Gln40Ter) variant details
- p.Gln40Ter
- rs779970018
- gnomAD 16-50699649-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.746
- CADD 36.00
- Population evidence available
- Structural context available
- Literature evidence available