S39C (p.Ser39Cys) variant of NOD2 (Q9HC29)
S39C (p.Ser39Cys) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S39C (p.Ser39Cys) variant details
- p.Ser39Cys
- rs146149433
- gnomAD 16-50699614-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- MetaLR 0.12
- MetaSVM -1.00
- CADD 23.40
- PolyPhen-2 0.96
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available