L19Q (p.Leu19Gln) variant of NOD2 (Q9HC29)
L19Q (p.Leu19Gln) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L19Q (p.Leu19Gln) variant details
- p.Leu19Gln
- rs757914381
- gnomAD 16-50699545-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- MetaLR 0.05
- MetaSVM -1.01
- CADD 18.80
- PolyPhen-2 0.17
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available