L20W (p.Leu20Trp) variant of NOD2 (Q9HC29)
L20W (p.Leu20Trp) in NOD2 (Q9HC29) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
L20W (p.Leu20Trp) variant details
- p.Leu20Trp
- gnomAD 16-50699581-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.466
- CADD 24.00
- Population evidence available
- Structural context available
- Literature evidence available