T21M (p.Thr21Met) variant of JAK3 (Tyrosine-protein kinase JAK3)
T21M (p.Thr21Met) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of T-B+ severe combined immunodeficiency due to JAK3 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
T21M (p.Thr21Met) variant details
- p.Thr21Met
- rs752820429
- ClinGen CA9302277
- cosmic curated COSV71686
- ClinVar RCV001301284
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.17
- CADD 18.60
- PolyPhen-2 0.27
- SIFT 0.10
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available