A20T (p.Ala20Thr) variant of IL2RB (P14784)
A20T (p.Ala20Thr) 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 0.39 / 1. The record also includes population frequency data.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs1035282252
- ClinGen CA324056613
- ClinVar RCV001961501
- TOPMed rs1035282252
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.27
- CADD 6.71
- PolyPhen-2 0.03
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 5e-05)