W709R (p.Trp709Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
W709R (p.Trp709Arg) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant 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 0.76 / 1. The record also includes population frequency data and structural context.
W709R (p.Trp709Arg) variant details
- p.Trp709Arg
- rs748216175
- ClinVar RCV000766118
- ExAC rs748216175
- TOPMed rs748216175
- no classification for the single variant
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.758
- REVEL 0.83
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: no classification for the single variant
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available