H27R (p.His27Arg) variant of JAK3 (Tyrosine-protein kinase JAK3)
H27R (p.His27Arg) in JAK3 (Tyrosine-protein kinase JAK3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
H27R (p.His27Arg) variant details
- p.His27Arg
- TOPMed rs1321875586
- gnomAD rs1321875586
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.26
- CADD 17.20
- PolyPhen-2 0.04
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available