E4D (p.Glu4Asp) variant of NOD2 (Q9HC29)
E4D (p.Glu4Asp) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E4D (p.Glu4Asp) variant details
- p.Glu4Asp
- gnomAD 16-50697255-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- MetaLR 0.19
- MetaSVM -0.88
- CADD 15.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available