E4G (p.Glu4Gly) variant of NOD2 (Q9HC29)
E4G (p.Glu4Gly) 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.
E4G (p.Glu4Gly) variant details
- p.Glu4Gly
- rs1263590939
- gnomAD 16-50697254-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- MetaLR 0.24
- MetaSVM -0.78
- CADD 16.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available