T110I (p.Thr110Ile) variant of IL12RB1 (P42701)
T110I (p.Thr110Ile) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data.
T110I (p.Thr110Ile) variant details
- p.Thr110Ile
- ExAC rs765371000
- TOPMed rs765371000
- gnomAD rs765371000
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 defic
- Missense
- Variant Prioritization Score for Impact Estimate 0.0531
- CADD 0.01
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to comple)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)