A44T (p.Ala44Thr) variant of IL12RB1 (P42701)
A44T (p.Ala44Thr) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
A44T (p.Ala44Thr) variant details
- p.Ala44Thr
- TOPMed rs2035969537
- gnomAD rs2035969537
- Missense
- Variant Prioritization Score for Impact Estimate 0.0742
- CADD 2.12
- PolyPhen-2 0.11
- SIFT 0.25
- Most common in the East Asian population (allele frequency 0.00015)