S9N (p.Ser9Asn) variant of NOD2 (Q9HC29)
S9N (p.Ser9Asn) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
S9N (p.Ser9Asn) variant details
- p.Ser9Asn
- rs1567380395
- gnomAD 16-50699530-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- MetaLR 0.10
- MetaSVM -0.91
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.12
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available