A20A (p.Ala20Ala) variant of F8 (Coagulation factor VIII)
A20A (p.Ala20Ala) in F8 (Coagulation factor VIII) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A20A (p.Ala20Ala) variant details
- p.Ala20Ala
- gnomAD X-154882148-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.264
- CADD 5.77
- Most common in the Non-Finnish European population (allele frequency 8.9e-06)
- Structural context available
- Literature evidence available