R38G (p.Arg38Gly) variant of NOD2 (Q9HC29)
R38G (p.Arg38Gly) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- rs748200640
- gnomAD 16-50699670-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.661
- MetaLR 0.14
- MetaSVM -0.92
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available