S18F (p.Ser18Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
S18F (p.Ser18Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S18F (p.Ser18Phe) variant details
- p.Ser18Phe
- gnomAD 9-5022040-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.35
- AlphaMissense 0.12
- MetaLR 0.30
- MetaSVM -0.59
- CADD 22.50
- PolyPhen-2 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available