E14A (p.Glu14Ala) variant of NOD2 (Q9HC29)
E14A (p.Glu14Ala) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E14A (p.Glu14Ala) variant details
- p.Glu14Ala
- gnomAD 16-50697284-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- MetaLR 0.15
- MetaSVM -0.96
- CADD 8.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available