C193Y (p.Cys193Tyr) variant of JAK3 (Tyrosine-protein kinase JAK3)
C193Y (p.Cys193Tyr) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.68 / 1. The record also includes population frequency data and structural context.
C193Y (p.Cys193Tyr) variant details
- p.Cys193Tyr
- rs1467075214
- ClinGen CA404772909
- ClinVar RCV001382206
- gnomAD rs1467075214
- Likely pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.68
- REVEL 0.63
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.72
- ClinVar: Likely pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1e-05)
- Structural context available