L39F (p.Leu39Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
L39F (p.Leu39Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
L39F (p.Leu39Phe) variant details
- p.Leu39Phe
- Ensembl rs1822469952
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.54
- AlphaMissense 0.23
- MetaLR 0.67
- MetaSVM 0.39
- CADD 24.40
- PolyPhen-2 1.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available