R85L (p.Arg85Leu) variant of IL12RB1 (P42701)
R85L (p.Arg85Leu) in IL12RB1 (P42701) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data.
R85L (p.Arg85Leu) variant details
- p.Arg85Leu
- ExAC rs754415781
- TOPMed rs754415781
- gnomAD rs754415781
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0869
- CADD 4.30
- PolyPhen-2 0.05
- SIFT 0.16
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)