T123I (p.Thr123Ile) variant of IL12RB1 (P42701)
T123I (p.Thr123Ile) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data.
T123I (p.Thr123Ile) variant details
- p.Thr123Ile
- TOPMed rs531901903
- gnomAD rs531901903
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- CADD 14.70
- PolyPhen-2 0.07
- SIFT 0.14
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)