R49Q (p.Arg49Gln) variant of JAK1 (Tyrosine-protein kinase JAK1)
R49Q (p.Arg49Gln) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R49Q (p.Arg49Gln) variant details
- p.Arg49Gln
- 1000Genomes rs137855123
- ExAC rs137855123
- gnomAD rs137855123
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.02
- CADD 12.00
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available