Q31E (p.Gln31Glu) variant of NOD2 (Q9HC29)
Q31E (p.Gln31Glu) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
Q31E (p.Gln31Glu) variant details
- p.Gln31Glu
- gnomAD 16-50699517-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- MetaLR 0.06
- MetaSVM -1.03
- CADD 24.00
- PolyPhen-2 0.55
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available