F57F (p.Phe57Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
F57F (p.Phe57Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F57F (p.Phe57Phe) variant details
- p.Phe57Phe
- gnomAD 9-5022158-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.492
- CADD 6.68
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available