E108Q (p.Glu108Gln) variant of IL12B (Interleukin-12 subunit beta)
E108Q (p.Glu108Gln) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
E108Q (p.Glu108Gln) variant details
- p.Glu108Gln
- ExAC rs775325033
- gnomAD rs775325033
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.13
- MetaLR 0.07
- MetaSVM -0.97
- CADD 24.30
- PolyPhen-2 0.49
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available