C79Y (p.Cys79Tyr) variant of IL12RB1 (P42701)
C79Y (p.Cys79Tyr) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data.
C79Y (p.Cys79Tyr) variant details
- p.Cys79Tyr
- ESP rs370818889
- ExAC rs370818889
- TOPMed rs370818889
- gnomAD rs370818889
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 20.40
- PolyPhen-2 0.02
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)