E14Q (p.Glu14Gln) variant of NOD2 (Q9HC29)
E14Q (p.Glu14Gln) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- gnomAD 16-50697283-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- MetaLR 0.17
- MetaSVM -0.89
- CADD 6.15
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available