A16E (p.Ala16Glu) variant of NOD2 (Q9HC29)
A16E (p.Ala16Glu) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A16E (p.Ala16Glu) variant details
- p.Ala16Glu
- gnomAD 16-50697290-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- MetaLR 0.15
- MetaSVM -0.87
- CADD 7.85
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available