K124Q (p.Lys124Gln) variant of IL12B (Interleukin-12 subunit beta)
K124Q (p.Lys124Gln) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
K124Q (p.Lys124Gln) variant details
- p.Lys124Gln
- gnomAD 5-159322506-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.07
- CADD 20.30
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available