T49I (p.Thr49Ile) variant of IL12B (Interleukin-12 subunit beta)
T49I (p.Thr49Ile) in IL12B (Interleukin-12 subunit beta) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- TOPMed rs56347721
- gnomAD rs56347721
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.19
- MetaLR 0.13
- MetaSVM -0.92
- CADD 23.70
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available