Q132H (p.Gln132His) variant of IL12RB1 (P42701)
Q132H (p.Gln132His) in IL12RB1 (P42701) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data.
Q132H (p.Gln132His) variant details
- p.Gln132His
- gnomAD rs1724438341
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 0.06
- PolyPhen-2 0.10
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)