S59F (p.Ser59Phe) variant of JAK2 (Tyrosine-protein kinase JAK2)
S59F (p.Ser59Phe) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S59F (p.Ser59Phe) variant details
- p.Ser59Phe
- rs754086152
- ClinGen CA4971494
- ClinVar RCV003344698
- ExAC rs754086152
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.05
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.02
- CADD 1.86
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)