R104Q (p.Arg104Gln) variant of JAK1 (Tyrosine-protein kinase JAK1)
R104Q (p.Arg104Gln) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R104Q (p.Arg104Gln) variant details
- p.Arg104Gln
- rs532214548
- ClinGen CA893190
- ClinVar RCV001902513
- 1000Genomes rs532214548
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.15
- CADD 22.90
- PolyPhen-2 0.06
- SIFT 0.34
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available