Q31* (p.Gln31Ter) variant of NOD2 (Q9HC29)
Q31* (p.Gln31Ter) 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.
Q31* (p.Gln31Ter) variant details
- p.Gln31Ter
- rs1567380372
- gnomAD 16-50699517-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.754
- CADD 37.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available