Q31H (p.Gln31His) variant of NOD2 (Q9HC29)
Q31H (p.Gln31His) in NOD2 (Q9HC29) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
Q31H (p.Gln31His) variant details
- p.Gln31His
- gnomAD 16-50699534-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- MetaLR 0.07
- MetaSVM -1.05
- CADD 22.60
- PolyPhen-2 1.00
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available