R350W (p.Arg350Trp) variant of JAK3 (Tyrosine-protein kinase JAK3)
R350W (p.Arg350Trp) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. Clinical records from ClinVar 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 0.61 / 1. The record also includes population frequency data and structural context.
R350W (p.Arg350Trp) variant details
- p.Arg350Trp
- cosmic curated COSV10974
- Ensembl rs2147694870
- Likely pathogenic
- T-B+ severe combined immunodeficiency due to JAK3 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.68
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (T-B+ severe combined immunodeficiency due to JAK3 deficiency)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available