R38H (p.Arg38His) variant of NOD2 (Q9HC29)
R38H (p.Arg38His) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- rs983465914
- gnomAD 16-50699674-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.03
- CADD 17.20
- PolyPhen-2 0.25
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available