L19F (p.Leu19Phe) variant of NOD2 (Q9HC29)
L19F (p.Leu19Phe) 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.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- rs1286500248
- gnomAD 16-50697298-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- MetaLR 0.16
- MetaSVM -0.99
- CADD 9.46
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available