S17S (p.Ser17Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
S17S (p.Ser17Ser) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S17S (p.Ser17Ser) variant details
- p.Ser17Ser
- rs1256899616
- gnomAD 9-5022038-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.636
- CADD 6.32
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Literature evidence available