T8M (p.Thr8Met) variant of JAK3 (Tyrosine-protein kinase JAK3)
T8M (p.Thr8Met) 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 0.33 / 1. The record also includes population frequency data and structural context.
T8M (p.Thr8Met) variant details
- p.Thr8Met
- rs145500023
- ClinGen CA160231
- ClinVar RCV000121264
- ClinVar RCV000639632
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.29
- CADD 22.90
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available