R104W (p.Arg104Trp) variant of JAK1 (Tyrosine-protein kinase JAK1)
R104W (p.Arg104Trp) 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 0.47 / 1. The record also includes population frequency data and structural context.
R104W (p.Arg104Trp) variant details
- p.Arg104Trp
- rs752389823
- ClinGen CA893192
- ClinVar RCV003550449
- ExAC rs752389823
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.40
- CADD 27.90
- PolyPhen-2 0.72
- SIFT 0.19
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available