R115Q (p.Arg115Gln) variant of IL2RB (P14784)
R115Q (p.Arg115Gln) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data.
R115Q (p.Arg115Gln) variant details
- p.Arg115Gln
- rs375543770
- ClinGen CA10216664
- ClinVar RCV003086642
- ClinVar RCV005587331
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0439
- REVEL 0.03
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.0001)