L19P (p.Leu19Pro) variant of NOD2 (Q9HC29)
L19P (p.Leu19Pro) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
L19P (p.Leu19Pro) variant details
- p.Leu19Pro
- rs757914381
- gnomAD 16-50699545-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- MetaLR 0.13
- MetaSVM -0.96
- CADD 23.90
- PolyPhen-2 0.95
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available