D44Y (p.Asp44Tyr) variant of JAK1 (Tyrosine-protein kinase JAK1)
D44Y (p.Asp44Tyr) in JAK1 (Tyrosine-protein kinase JAK1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
D44Y (p.Asp44Tyr) variant details
- p.Asp44Tyr
- gnomAD rs1423947609
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.27
- CADD 24.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available