C10R (p.Cys10Arg) variant of JAK1 (Tyrosine-protein kinase JAK1)
C10R (p.Cys10Arg) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- ExAC rs765747182
- gnomAD rs765747182
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.50
- CADD 24.50
- PolyPhen-2 0.20
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available