S30N (p.Ser30Asn) variant of NOD2 (Q9HC29)
S30N (p.Ser30Asn) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
S30N (p.Ser30Asn) variant details
- p.Ser30Asn
- rs749222396
- gnomAD 16-50699578-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- MetaLR 0.05
- MetaSVM -1.03
- CADD 20.70
- PolyPhen-2 0.42
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available