R33W (p.Arg33Trp) variant of JAK3 (Tyrosine-protein kinase JAK3)
R33W (p.Arg33Trp) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R33W (p.Arg33Trp) variant details
- p.Arg33Trp
- cosmic curated COSV71685
- ExAC rs565783591
- TOPMed rs565783591
- gnomAD rs565783591
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.40
- CADD 22.70
- PolyPhen-2 0.64
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00016)
- Structural context available