S32C (p.Ser32Cys) variant of F8 (Coagulation factor VIII)
S32C (p.Ser32Cys) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S32C (p.Ser32Cys) variant details
- p.Ser32Cys
- rs1187385318
- gnomAD X-154882110-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.245
- CADD 3.18
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available