R120W (p.Arg120Trp) variant of IL12RB1 (P42701)
R120W (p.Arg120Trp) in IL12RB1 (P42701) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data.
R120W (p.Arg120Trp) variant details
- p.Arg120Trp
- gnomAD rs1159627144
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 14.20
- PolyPhen-2 0.32
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)