V18F (p.Val18Phe) variant of NOD2 (Q9HC29)
V18F (p.Val18Phe) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V18F (p.Val18Phe) variant details
- p.Val18Phe
- rs886052043
- gnomAD 16-50697295-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- MetaLR 0.20
- MetaSVM -0.82
- CADD 8.61
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available