S59C (p.Ser59Cys) variant of JAK2 (Tyrosine-protein kinase JAK2)
S59C (p.Ser59Cys) 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 not specified; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
S59C (p.Ser59Cys) variant details
- p.Ser59Cys
- rs754086152
- ClinGen CA4971495
- ClinVar RCV001822470
- ClinVar RCV004988770
- Uncertain significance
- not specified; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.02
- AlphaMissense 0.07
- MetaLR 0.07
- MetaSVM -1.00
- CADD 4.86
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (not specified; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- 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)