R93S (p.Arg93Ser) variant of JAK1 (Tyrosine-protein kinase JAK1)
R93S (p.Arg93Ser) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R93S (p.Arg93Ser) variant details
- p.Arg93Ser
- ExAC rs768706312
- TOPMed rs768706312
- gnomAD rs768706312
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.17
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available