R49W (p.Arg49Trp) variant of JAK1 (Tyrosine-protein kinase JAK1)
R49W (p.Arg49Trp) 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 Inborn genetic diseases; Autoinflammation, immune dysregulation, and eosinophili. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
R49W (p.Arg49Trp) variant details
- p.Arg49Trp
- rs754991396
- ClinGen CA893236
- ClinVar RCV001984759
- ClinVar RCV003322626
- Uncertain significance
- Inborn genetic diseases; Autoinflammation, immune dysregulation, and eosinophili
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.11
- CADD 22.80
- PolyPhen-2 0.13
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases; Autoinflammation, immune dysregulation,)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00096)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)