A27T (p.Ala27Thr) variant of IL2RB (P14784)
A27T (p.Ala27Thr) 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 0.47 / 1. The record also includes population frequency data.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- TOPMed rs1403989214
- gnomAD rs1403989214
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.31
- CADD 13.70
- PolyPhen-2 0.62
- SIFT 0.09
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)