A16V (p.Ala16Val) variant of NOD2 (Q9HC29)
A16V (p.Ala16Val) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- gnomAD 16-50697290-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- MetaLR 0.17
- MetaSVM -0.91
- CADD 15.50
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available