S26S (p.Ser26Ser) variant of JAK2 (Tyrosine-protein kinase JAK2)
S26S (p.Ser26Ser) in JAK2 (Tyrosine-protein kinase JAK2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S26S (p.Ser26Ser) variant details
- p.Ser26Ser
- rs772519132
- gnomAD 9-5022065-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 12.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available