Y44Y (p.Tyr44Tyr) variant of JAK2 (Tyrosine-protein kinase JAK2)
Y44Y (p.Tyr44Tyr) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Y44Y (p.Tyr44Tyr) variant details
- p.Tyr44Tyr
- rs759331856
- gnomAD 9-5022119-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 6.71
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available