L55L (p.Leu55Leu) variant of JAK2 (Tyrosine-protein kinase JAK2)
L55L (p.Leu55Leu) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L55L (p.Leu55Leu) variant details
- p.Leu55Leu
- rs1379385626
- gnomAD 9-5022152-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.157
- CADD 1.57
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available