L19M (p.Leu19Met) variant of NOD2 (Q9HC29)
L19M (p.Leu19Met) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L19M (p.Leu19Met) variant details
- p.Leu19Met
- rs761191478
- gnomAD 16-50699535-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- MetaLR 0.17
- MetaSVM -0.76
- CADD 23.70
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available