L19I (p.Leu19Ile) variant of NOD2 (Q9HC29)
L19I (p.Leu19Ile) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L19I (p.Leu19Ile) variant details
- p.Leu19Ile
- gnomAD 16-50697298-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- MetaLR 0.16
- MetaSVM -0.95
- CADD 8.40
- SIFT 0.42
- Population evidence available
- Structural context available
- Literature evidence available