P127R (p.Pro127Arg) variant of IL12RB1 (P42701)
P127R (p.Pro127Arg) 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 0.32 / 1. The record also includes population frequency data.
P127R (p.Pro127Arg) variant details
- p.Pro127Arg
- ExAC rs774846440
- TOPMed rs774846440
- gnomAD rs774846440
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- CADD 14.90
- PolyPhen-2 0.08
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)