I136F (p.Ile136Phe) variant of IL2RB (P14784)
I136F (p.Ile136Phe) 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 0.26 / 1. The record also includes population frequency data.
I136F (p.Ile136Phe) variant details
- p.Ile136Phe
- ExAC rs764222346
- TOPMed rs764222346
- gnomAD rs764222346
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.41
- CADD 1.27
- PolyPhen-2 0.11
- SIFT 0.06
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)