S18S (p.Ser18Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
S18S (p.Ser18Ser) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- gnomAD 9-5022041-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.177
- CADD 4.98
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available