S17R (p.Ser17Arg) variant of NOD2 (Q9HC29)
S17R (p.Ser17Arg) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S17R (p.Ser17Arg) variant details
- p.Ser17Arg
- rs1206486127
- gnomAD 16-50697294-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.141
- MetaLR 0.16
- MetaSVM -0.92
- CADD 3.14
- SIFT 0.18
- Population evidence available
- Structural context available
- Literature evidence available