E12D (p.Glu12Asp) variant of NOD2 (Q9HC29)
E12D (p.Glu12Asp) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- gnomAD 16-50697279-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- MetaLR 0.12
- MetaSVM -1.01
- CADD 5.70
- SIFT 0.44
- Population evidence available
- Structural context available
- Literature evidence available