M119T (p.Met119Thr) variant of IL2RB (P14784)
M119T (p.Met119Thr) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data.
M119T (p.Met119Thr) variant details
- p.Met119Thr
- rs550638824
- ClinGen CA10216659
- ClinVar RCV001305747
- ClinVar RCV005851798
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.32
- CADD 12.80
- PolyPhen-2 0.03
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.01)