H75Y (p.His75Tyr) variant of JAK1 (Tyrosine-protein kinase JAK1)
H75Y (p.His75Tyr) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
H75Y (p.His75Tyr) variant details
- p.His75Tyr
- Ensembl rs1644729865
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.43
- CADD 23.20
- PolyPhen-2 0.79
- SIFT 0.68
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available