Q33R (p.Gln33Arg) variant of IL2RB (P14784)
Q33R (p.Gln33Arg) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- rs147889445
- ClinGen CA10216745
- ClinVar RCV002044117
- ESP rs147889445
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.28
- CADD 1.85
- PolyPhen-2 0.00
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)