L19V (p.Leu19Val) variant of NOD2 (Q9HC29)
L19V (p.Leu19Val) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- gnomAD 16-50699544-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- MetaLR 0.09
- MetaSVM -1.06
- CADD 15.80
- PolyPhen-2 0.78
- SIFT 0.70
- Population evidence available
- Structural context available
- Literature evidence available