R38S (p.Arg38Ser) variant of NOD2 (Q9HC29)
R38S (p.Arg38Ser) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- gnomAD 16-50699673-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- MetaLR 0.07
- MetaSVM -1.04
- CADD 23.60
- PolyPhen-2 0.78
- SIFT 0.49
- Population evidence available
- Structural context available
- Literature evidence available