P44S (p.Pro44Ser) variant of F8 (Coagulation factor VIII)
P44S (p.Pro44Ser) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- rs1557274489
- gnomAD X-154882063-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 2.93
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 2e-05)
- Structural context available
- Literature evidence available