S46S (p.Ser46Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
S46S (p.Ser46Ser) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. 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.
S46S (p.Ser46Ser) variant details
- p.Ser46Ser
- rs1481240014
- gnomAD 9-5022125-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.72
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available