E4K (p.Glu4Lys) variant of NOD2 (Q9HC29)
E4K (p.Glu4Lys) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E4K (p.Glu4Lys) variant details
- p.Glu4Lys
- gnomAD 16-50697253-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- MetaLR 0.22
- MetaSVM -0.84
- CADD 15.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available