S9P (p.Ser9Pro) variant of NOD2 (Q9HC29)
S9P (p.Ser9Pro) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S9P (p.Ser9Pro) variant details
- p.Ser9Pro
- gnomAD 16-50697268-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.217
- MetaLR 0.17
- MetaSVM -0.91
- CADD 8.81
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available