C79R (p.Cys79Arg) variant of IL12RB1 (P42701)
C79R (p.Cys79Arg) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
C79R (p.Cys79Arg) variant details
- p.Cys79Arg
- ExAC rs777387135
- gnomAD rs777387135
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- CADD 15.90
- PolyPhen-2 0.38
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00015)