S15F (p.Ser15Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
S15F (p.Ser15Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. 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.
S15F (p.Ser15Phe) variant details
- p.Ser15Phe
- ExAC rs200322825
- TOPMed rs200322825
- gnomAD rs200322825
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.18
- AlphaMissense 0.12
- MetaLR 0.34
- MetaSVM -0.50
- CADD 18.60
- PolyPhen-2 0.21
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available