S17C (p.Ser17Cys) variant of NOD2 (Q9HC29)
S17C (p.Ser17Cys) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S17C (p.Ser17Cys) variant details
- p.Ser17Cys
- gnomAD 16-50697292-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- MetaLR 0.17
- MetaSVM -0.89
- CADD 4.54
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available