S30S (p.Ser30Ser) variant of NOD2 (Q9HC29)
S30S (p.Ser30Ser) in NOD2 (Q9HC29) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
S30S (p.Ser30Ser) variant details
- p.Ser30Ser
- rs768665692
- gnomAD 16-50699579-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.69
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available