E35D (p.Glu35Asp) variant of F9 (Coagulation factor IX)
E35D (p.Glu35Asp) in F9 (Coagulation factor IX) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
E35D (p.Glu35Asp) variant details
- p.Glu35Asp
- ExAC rs779083411
- gnomAD rs779083411
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.24
- MetaLR 0.65
- MetaSVM 0.01
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available