R54G (p.Arg54Gly) variant of IL12RB1 (P42701)
R54G (p.Arg54Gly) 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 0.39 / 1. The record also includes population frequency data.
R54G (p.Arg54Gly) variant details
- p.Arg54Gly
- ESP rs367796048
- ExAC rs367796048
- TOPMed rs367796048
- gnomAD rs367796048
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)