E14K (p.Glu14Lys) variant of NOD2 (Q9HC29)
E14K (p.Glu14Lys) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- rs1244953214
- gnomAD 16-50697283-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- MetaLR 0.18
- MetaSVM -0.91
- CADD 7.66
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available