L43F (p.Leu43Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
L43F (p.Leu43Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L43F (p.Leu43Phe) variant details
- p.Leu43Phe
- TOPMed rs1822470695
- gnomAD rs1822470695
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.24
- AlphaMissense 0.18
- MetaLR 0.25
- MetaSVM -0.73
- CADD 20.00
- PolyPhen-2 0.25
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available