L6L (p.Leu6Leu) variant of JAK2 (Tyrosine-protein kinase JAK2)
L6L (p.Leu6Leu) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- rs1822463819
- gnomAD 9-5022005-T-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.217
- CADD 6.47
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available