E56Q (p.Glu56Gln) variant of F10 (Coagulation factor X)
E56Q (p.Glu56Gln) in F10 (Coagulation factor X) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
E56Q (p.Glu56Gln) variant details
- p.Glu56Gln
- gnomAD 13-113129547-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.83
- MetaLR 1.00
- MetaSVM 1.04
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available