A20S (p.Ala20Ser) variant of IL2RB (P14784)
A20S (p.Ala20Ser) 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 0.49 / 1. The record also includes population frequency data.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- TOPMed rs1035282252
- gnomAD rs1035282252
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.39
- CADD 12.80
- PolyPhen-2 0.28
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available