S17F (p.Ser17Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
S17F (p.Ser17Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S17F (p.Ser17Phe) variant details
- p.Ser17Phe
- gnomAD rs1168591378
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.24
- AlphaMissense 0.12
- MetaLR 0.31
- MetaSVM -0.59
- CADD 16.50
- PolyPhen-2 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available