Q5H (p.Gln5His) variant of IL12B (Interleukin-12 subunit beta)
Q5H (p.Gln5His) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
Q5H (p.Gln5His) variant details
- p.Gln5His
- ExAC rs749205262
- TOPMed rs749205262
- gnomAD rs749205262
- Missense
- Variant Prioritization Score for Impact Estimate 0.137
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.01
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.67
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available