R23S (p.Arg23Ser) variant of F8 (Coagulation factor VIII)
R23S (p.Arg23Ser) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
R23S (p.Arg23Ser) variant details
- p.Arg23Ser
- gnomAD X-154882124-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.0954
- CADD 5.54
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 8.8e-06)
- Structural context available
- Literature evidence available