A20T (p.Ala20Thr) variant of F8 (Coagulation factor VIII)
A20T (p.Ala20Thr) in F8 (Coagulation factor VIII) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
A20T (p.Ala20Thr) variant details
- p.Ala20Thr
- rs1233777581
- gnomAD X-154882150-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- CADD 4.41
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 7.6e-05)
- Structural context available
- Literature evidence available