V18A (p.Val18Ala) variant of NOD2 (Q9HC29)
V18A (p.Val18Ala) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
V18A (p.Val18Ala) variant details
- p.Val18Ala
- gnomAD 16-50697296-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- MetaLR 0.17
- MetaSVM -0.83
- CADD 13.40
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available