D123E (p.Asp123Glu) variant of IL2RB (P14784)
D123E (p.Asp123Glu) 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 0.19 / 1. The record also includes population frequency data.
D123E (p.Asp123Glu) variant details
- p.Asp123Glu
- ExAC rs770365586
- TOPMed rs770365586
- gnomAD rs770365586
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.28
- CADD 0.94
- PolyPhen-2 0.01
- SIFT 0.42
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00019)