S9Y (p.Ser9Tyr) variant of NOD2 (Q9HC29)
S9Y (p.Ser9Tyr) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S9Y (p.Ser9Tyr) variant details
- p.Ser9Tyr
- gnomAD 16-50697269-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.171
- MetaLR 0.21
- MetaSVM -0.80
- CADD 7.84
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available