L20F (p.Leu20Phe) variant of NOD2 (Q9HC29)
L20F (p.Leu20Phe) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L20F (p.Leu20Phe) variant details
- p.Leu20Phe
- gnomAD 16-50697301-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- MetaLR 0.17
- MetaSVM -0.83
- CADD 7.72
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available