R69G (p.Arg69Gly) variant of IL2RB (P14784)
R69G (p.Arg69Gly) in IL2RB (P14784) 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 0.24 / 1. The record also includes population frequency data.
R69G (p.Arg69Gly) variant details
- p.Arg69Gly
- 1000Genomes rs117728347
- ExAC rs117728347
- TOPMed rs117728347
- gnomAD rs117728347
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.34
- CADD 5.17
- PolyPhen-2 0.05
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.0049)