Y38F (p.Tyr38Phe) variant of IL2RB (P14784)
Y38F (p.Tyr38Phe) in IL2RB (P14784) is a missense change. Clinical records from ClinVar 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 0.50 / 1. The record also includes population frequency data.
Y38F (p.Tyr38Phe) variant details
- p.Tyr38Phe
- ExAC rs774508915
- TOPMed rs774508915
- gnomAD rs774508915
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.40
- CADD 25.90
- PolyPhen-2 0.95
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)