R108Q (p.Arg108Gln) variant of JAK1 (Tyrosine-protein kinase JAK1)
R108Q (p.Arg108Gln) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R108Q (p.Arg108Gln) variant details
- p.Arg108Gln
- Ensembl rs2101215121
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Base editing screens map mutations affecting interferon-γ signalling in cancer: score 18