Q120K (p.Gln120Lys) variant of IL12B (Interleukin-12 subunit beta)
Q120K (p.Gln120Lys) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q120K (p.Gln120Lys) variant details
- p.Gln120Lys
- ExAC rs778309275
- gnomAD rs778309275
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -0.99
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.31
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available