R69C (p.Arg69Cys) variant of JAK1 (Tyrosine-protein kinase JAK1)
R69C (p.Arg69Cys) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
R69C (p.Arg69Cys) variant details
- p.Arg69Cys
- ExAC rs762318572
- TOPMed rs762318572
- gnomAD rs762318572
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.14
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available