R38C (p.Arg38Cys) variant of NOD2 (Q9HC29)
R38C (p.Arg38Cys) 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.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- rs374128251
- gnomAD 16-50699673-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.482
- AlphaMissense 0.09
- MetaLR 0.10
- MetaSVM -1.06
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available