E14del (p.Glu14del) variant of NOD2 (Q9HC29)
E14del (p.Glu14del) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
E14del (p.Glu14del) variant details
- rs1276780175
- gnomAD 16-50697276-TGAG-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.105
- CADD 3.50
- Population evidence available
- Structural context available
- Literature evidence available