H106Y (p.His106Tyr) variant of JAK1 (Tyrosine-protein kinase JAK1)
H106Y (p.His106Tyr) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
H106Y (p.His106Tyr) variant details
- p.His106Tyr
- gnomAD rs1461694087
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.22
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available