R19K (p.Arg19Lys) variant of IL12RB1 (P42701)
R19K (p.Arg19Lys) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- TOPMed rs1310287396
- gnomAD rs1310287396
- Missense
- Variant Prioritization Score for Impact Estimate 0.0732
- CADD 3.03
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the HGDP:YAKUT population (allele frequency 0.04)