S46Y (p.Ser46Tyr) variant of JAK2 (Tyrosine-protein kinase JAK2)
S46Y (p.Ser46Tyr) in JAK2 (Tyrosine-protein kinase JAK2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S46Y (p.Ser46Tyr) variant details
- p.Ser46Tyr
- rs138655335
- ClinGen CA4971487
- ClinVar RCV002621061
- ClinVar RCV002643708
- Conflicting interpretations
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.23
- AlphaMissense 0.14
- MetaLR 0.25
- MetaSVM -0.67
- CADD 19.90
- PolyPhen-2 0.91
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00084)
- 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)