F57L (p.Phe57Leu) variant of JAK2 (Tyrosine-protein kinase JAK2)
F57L (p.Phe57Leu) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
F57L (p.Phe57Leu) variant details
- p.Phe57Leu
- ExAC rs767273014
- TOPMed rs767273014
- gnomAD rs767273014
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.13
- AlphaMissense 0.88
- MetaLR 0.06
- MetaSVM -1.08
- CADD 15.40
- PolyPhen-2 0.01
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available