R104L (p.Arg104Leu) variant of JAK1 (Tyrosine-protein kinase JAK1)
R104L (p.Arg104Leu) 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 0.42 / 1. The record also includes population frequency data and structural context.
R104L (p.Arg104Leu) variant details
- p.Arg104Leu
- 1000Genomes rs532214548
- ExAC rs532214548
- TOPMed rs532214548
- gnomAD rs532214548
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.34
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.72
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available