P4T (p.Pro4Thr) variant of IL2RB (P14784)
P4T (p.Pro4Thr) 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 0.20 / 1. The record also includes population frequency data.
P4T (p.Pro4Thr) variant details
- p.Pro4Thr
- rs1203813846
- ClinGen CA411429833
- ClinVar RCV001947372
- gnomAD rs1203813846
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.26
- CADD 0.39
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)