A16S (p.Ala16Ser) variant of NOD2 (Q9HC29)
A16S (p.Ala16Ser) 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.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- gnomAD 16-50697289-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- MetaLR 0.17
- MetaSVM -0.88
- CADD 3.54
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available