R33Q (p.Arg33Gln) variant of JAK3 (Tyrosine-protein kinase JAK3)
R33Q (p.Arg33Gln) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar 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 0.40 / 1. The record also includes population frequency data and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- ExAC rs768370832
- TOPMed rs768370832
- gnomAD rs768370832
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.27
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.26
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available