E32Q (p.Glu32Gln) variant of NOD2 (Q9HC29)
E32Q (p.Glu32Gln) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- gnomAD 16-50699604-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- MetaLR 0.06
- MetaSVM -1.02
- CADD 24.00
- PolyPhen-2 0.58
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available