H27Q (p.His27Gln) variant of JAK3 (Tyrosine-protein kinase JAK3)
H27Q (p.His27Gln) 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 0.13 / 1. The record also includes population frequency data and structural context.
H27Q (p.His27Gln) variant details
- p.His27Gln
- rs1039181282
- ClinGen CA306142410
- ClinVar RCV000553899
- TOPMed rs1039181282
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.18
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available