E12V (p.Glu12Val) variant of NOD2 (Q9HC29)
E12V (p.Glu12Val) 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.
E12V (p.Glu12Val) variant details
- p.Glu12Val
- gnomAD 16-50697278-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- MetaLR 0.17
- MetaSVM -0.91
- CADD 7.40
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available