D47E (p.Asp47Glu) variant of JAK3 (Tyrosine-protein kinase JAK3)
D47E (p.Asp47Glu) 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 0.09 / 1. The record also includes population frequency data and structural context.
D47E (p.Asp47Glu) variant details
- p.Asp47Glu
- rs1599881400
- ClinGen CA404775118
- ClinVar RCV000813663
- Ensembl rs1599881400
- Uncertain significance
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0926
- REVEL 0.05
- CADD 9.69
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available