S30R (p.Ser30Arg) variant of NOD2 (Q9HC29)
S30R (p.Ser30Arg) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S30R (p.Ser30Arg) variant details
- p.Ser30Arg
- gnomAD 16-50699579-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- MetaLR 0.04
- MetaSVM -1.04
- CADD 2.80
- PolyPhen-2 0.02
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available