S23F (p.Ser23Phe) variant of NOD2 (Q9HC29)
S23F (p.Ser23Phe) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S23F (p.Ser23Phe) variant details
- p.Ser23Phe
- rs1963696194
- gnomAD 16-50697311-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- MetaLR 0.15
- MetaSVM -0.91
- CADD 7.74
- SIFT 0.30
- Population evidence available
- Structural context available
- Literature evidence available