R78Q (p.Arg78Gln) variant of IL12RB1 (P42701)
R78Q (p.Arg78Gln) in IL12RB1 (P42701) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs1357460137
- TOPMed rs1357460137
- gnomAD rs1357460137
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- CADD 11.60
- PolyPhen-2 0.27
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)