E12K (p.Glu12Lys) variant of NOD2 (Q9HC29)
E12K (p.Glu12Lys) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
E12K (p.Glu12Lys) variant details
- p.Glu12Lys
- gnomAD 16-50697277-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- MetaLR 0.16
- MetaSVM -0.93
- CADD 10.80
- SIFT 0.34
- Population evidence available
- Structural context available
- Literature evidence available