E14E (p.Glu14Glu) variant of NOD2 (Q9HC29)
E14E (p.Glu14Glu) in NOD2 (Q9HC29) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E14E (p.Glu14Glu) variant details
- p.Glu14Glu
- gnomAD 16-50699543-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.183
- CADD 4.42
- Population evidence available
- Structural context available
- Literature evidence available