D784N (p.Asp784Asn) variant of JAK3 (Tyrosine-protein kinase JAK3)
D784N (p.Asp784Asn) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as 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 0.44 / 1. The record also includes population frequency data and structural context.
D784N (p.Asp784Asn) variant details
- p.Asp784Asn
- rs760051760
- ClinGen CA9301624
- ClinVar RCV003079231
- ClinVar RCV005930408
- Pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.15
- CADD 33.00
- PolyPhen-2 0.49
- SIFT 0.30
- ClinVar: Pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available