S17N (p.Ser17Asn) variant of NOD2 (Q9HC29)
S17N (p.Ser17Asn) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
S17N (p.Ser17Asn) variant details
- p.Ser17Asn
- rs1353867731
- gnomAD 16-50697293-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- MetaLR 0.15
- MetaSVM -0.96
- CADD 2.40
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available