V18D (p.Val18Asp) variant of NOD2 (Q9HC29)
V18D (p.Val18Asp) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V18D (p.Val18Asp) variant details
- p.Val18Asp
- gnomAD 16-50697296-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- MetaLR 0.26
- MetaSVM -0.72
- CADD 18.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available