L47L (p.Leu47Leu) variant of JAK2 (Tyrosine-protein kinase JAK2)
L47L (p.Leu47Leu) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L47L (p.Leu47Leu) variant details
- p.Leu47Leu
- rs149333413
- gnomAD 9-5022128-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 9.23
- Population evidence available
- Structural context available
- Literature evidence available