R63K (p.Arg63Lys) variant of JAK1 (Tyrosine-protein kinase JAK1)
R63K (p.Arg63Lys) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R63K (p.Arg63Lys) variant details
- p.Arg63Lys
- gnomAD rs1210409026
- Missense
- Variant Prioritization Score for Impact Estimate 0.0854
- REVEL 0.05
- CADD 7.27
- PolyPhen-2 0.00
- SIFT 0.77
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available