S49S (p.Ser49Ser) variant of F9 (Coagulation factor IX)
S49S (p.Ser49Ser) in F9 (Coagulation factor IX) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S49S (p.Ser49Ser) variant details
- p.Ser49Ser
- rs1927493537
- gnomAD X-139537068-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.144
- CADD 8.89
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available