G528D (p.Gly528Asp) variant of JAK3 (Tyrosine-protein kinase JAK3)
G528D (p.Gly528Asp) 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 0.83 / 1. The record also includes population frequency data and structural context.
G528D (p.Gly528Asp) variant details
- p.Gly528Asp
- rs1456950456
- ClinGen CA404769650
- ClinVar RCV003236629
- TOPMed rs1456950456
- Likely pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.87
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available