R651W (p.Arg651Trp) variant of JAK3 (Tyrosine-protein kinase JAK3)
R651W (p.Arg651Trp) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/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 0.65 / 1. The record also includes population frequency data and structural context.
R651W (p.Arg651Trp) variant details
- p.Arg651Trp
- rs747131454
- ClinGen CA9301715
- ClinVar RCV003509028
- ExAC rs747131454
- Pathogenic/Likely pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.75
- CADD 24.10
- PolyPhen-2 0.05
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available