L20I (p.Leu20Ile) variant of NOD2 (Q9HC29)
L20I (p.Leu20Ile) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L20I (p.Leu20Ile) variant details
- p.Leu20Ile
- gnomAD 16-50697301-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- MetaLR 0.18
- MetaSVM -0.87
- CADD 4.03
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available