E3K (p.Glu3Lys) variant of NOD2 (Q9HC29)
E3K (p.Glu3Lys) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
E3K (p.Glu3Lys) variant details
- p.Glu3Lys
- gnomAD 16-50697250-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- MetaLR 0.15
- MetaSVM -0.97
- CADD 8.30
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available