Q31R (p.Gln31Arg) variant of NOD2 (Q9HC29)
Q31R (p.Gln31Arg) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q31R (p.Gln31Arg) variant details
- p.Gln31Arg
- rs1294855545
- gnomAD 16-50699524-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- MetaLR 0.07
- MetaSVM -1.10
- CADD 21.30
- PolyPhen-2 0.39
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available