S32F (p.Ser32Phe) variant of F8 (Coagulation factor VIII)
S32F (p.Ser32Phe) in F8 (Coagulation factor VIII) is a missense 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.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- rs1187385318
- gnomAD X-154882110-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 3.60
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 9.8e-05)
- Structural context available
- Literature evidence available